SNP Links for Protein (Select 170763527) - SNP

Select item 14903469311.

rs1490346931 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:94664773 (GRCh38)
8:95677001 (GRCh37)
Canonical SPDI:: NC_000008.11:94664772:A:G
Gene:: ESRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.94664773A>G, NC_000008.10:g.95677001A>G, NM_017697.4:c.721A>G, NM_017697.3:c.721A>G, XM_005250991.4:c.721A>G, XM_005250991.3:c.721A>G, XM_005250991.2:c.721A>G, XM_005250991.1:c.721A>G, NM_001034915.3:c.721A>G, NM_001034915.2:c.721A>G, NM_001122826.2:c.721A>G, NM_001122826.1:c.721A>G, NM_001122825.2:c.721A>G, NM_001122825.1:c.721A>G, NM_001122827.2:c.721A>G, NM_001122827.1:c.721A>G, XM_047421916.1:c.721A>G, NP_060167.2:p.Ile241Val, XP_005251048.1:p.Ile241Val, NP_001030087.2:p.Ile241Val, NP_001116298.1:p.Ile241Val, NP_001116297.1:p.Ile241Val, NP_001116299.1:p.Ile241Val, XP_047277872.1:p.Ile241Val

Select item 14823934732.

rs1482393473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:94678346 (GRCh38)
8:95690574 (GRCh37)
Canonical SPDI:: NC_000008.11:94678345:A:G
Gene:: ESRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.94678346A>G, NC_000008.10:g.95690574A>G, NM_017697.4:c.1795A>G, NM_017697.3:c.1795A>G, XM_005250991.4:c.1795A>G, XM_005250991.3:c.1795A>G, XM_005250991.2:c.1795A>G, XM_005250991.1:c.1795A>G, NM_001034915.3:c.1783A>G, NM_001034915.2:c.1783A>G, NM_001122826.2:c.1783A>G, NM_001122826.1:c.1783A>G, NM_001122825.2:c.1795A>G, NM_001122825.1:c.1795A>G, NM_001122827.2:c.1783A>G, NM_001122827.1:c.1783A>G, XM_047421916.1:c.1795A>G, NP_060167.2:p.Met599Val, XP_005251048.1:p.Met599Val, NP_001030087.2:p.Met595Val, NP_001116298.1:p.Met595Val, NP_001116297.1:p.Met599Val, NP_001116299.1:p.Met595Val, XP_047277872.1:p.Met599Val

Select item 14819032333.

rs1481903233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:94674351 (GRCh38)
8:95686579 (GRCh37)
Canonical SPDI:: NC_000008.11:94674350:A:G
Gene:: ESRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.94674351A>G, NC_000008.10:g.95686579A>G, NM_017697.4:c.1496A>G, NM_017697.3:c.1496A>G, XM_005250991.4:c.1496A>G, XM_005250991.3:c.1496A>G, XM_005250991.2:c.1496A>G, XM_005250991.1:c.1496A>G, NM_001034915.3:c.1496A>G, NM_001034915.2:c.1496A>G, NM_001122826.2:c.1496A>G, NM_001122826.1:c.1496A>G, NM_001122825.2:c.1496A>G, NM_001122825.1:c.1496A>G, NM_001122827.2:c.1496A>G, NM_001122827.1:c.1496A>G, XM_047421916.1:c.1496A>G, NP_060167.2:p.Asp499Gly, XP_005251048.1:p.Asp499Gly, NP_001030087.2:p.Asp499Gly, NP_001116298.1:p.Asp499Gly, NP_001116297.1:p.Asp499Gly, NP_001116299.1:p.Asp499Gly, XP_047277872.1:p.Asp499Gly

Select item 14814430824.

rs1481443082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:94678255 (GRCh38)
8:95690483 (GRCh37)
Canonical SPDI:: NC_000008.11:94678254:A:G
Gene:: ESRP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.94678255A>G, NC_000008.10:g.95690483A>G, NM_017697.4:c.1704A>G, NM_017697.3:c.1704A>G, XM_005250991.4:c.1704A>G, XM_005250991.3:c.1704A>G, XM_005250991.2:c.1704A>G, XM_005250991.1:c.1704A>G, NM_001034915.3:c.1692A>G, NM_001034915.2:c.1692A>G, NM_001122826.2:c.1692A>G, NM_001122826.1:c.1692A>G, NM_001122825.2:c.1704A>G, NM_001122825.1:c.1704A>G, NM_001122827.2:c.1692A>G, NM_001122827.1:c.1692A>G, XM_047421916.1:c.1704A>G

Select item 14805975295.

rs1480597529 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:94641350 (GRCh38)
8:95653578 (GRCh37)
Canonical SPDI:: NC_000008.11:94641349:T:C
Gene:: ESRP1 (Varview), LINC02894 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.94641350T>C, NC_000008.10:g.95653578T>C, NM_017697.4:c.32T>C, NM_017697.3:c.32T>C, XM_005250991.4:c.32T>C, XM_005250991.3:c.32T>C, XM_005250991.2:c.32T>C, XM_005250991.1:c.32T>C, NM_001034915.3:c.32T>C, NM_001034915.2:c.32T>C, NM_001122826.2:c.32T>C, NM_001122826.1:c.32T>C, NM_001122825.2:c.32T>C, NM_001122825.1:c.32T>C, NM_001122827.2:c.32T>C, NM_001122827.1:c.32T>C, XM_047421916.1:c.32T>C, NP_060167.2:p.Leu11Pro, XP_005251048.1:p.Leu11Pro, NP_001030087.2:p.Leu11Pro, NP_001116298.1:p.Leu11Pro, NP_001116297.1:p.Leu11Pro, NP_001116299.1:p.Leu11Pro, XP_047277872.1:p.Leu11Pro

Select item 14790926576.

rs1479092657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:94668142 (GRCh38)
8:95680370 (GRCh37)
Canonical SPDI:: NC_000008.11:94668141:C:T
Gene:: ESRP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.94668142C>T, NC_000008.10:g.95680370C>T, NM_017697.4:c.1125C>T, NM_017697.3:c.1125C>T, XM_005250991.4:c.1125C>T, XM_005250991.3:c.1125C>T, XM_005250991.2:c.1125C>T, XM_005250991.1:c.1125C>T, NM_001034915.3:c.1125C>T, NM_001034915.2:c.1125C>T, NM_001122826.2:c.1125C>T, NM_001122826.1:c.1125C>T, NM_001122825.2:c.1125C>T, NM_001122825.1:c.1125C>T, NM_001122827.2:c.1125C>T, NM_001122827.1:c.1125C>T, XM_047421916.1:c.1125C>T

Select item 14787641487.

rs1478764148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:94674343 (GRCh38)
8:95686571 (GRCh37)
Canonical SPDI:: NC_000008.11:94674342:G:T
Gene:: ESRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.94674343G>T, NC_000008.10:g.95686571G>T, NM_017697.4:c.1488G>T, NM_017697.3:c.1488G>T, XM_005250991.4:c.1488G>T, XM_005250991.3:c.1488G>T, XM_005250991.2:c.1488G>T, XM_005250991.1:c.1488G>T, NM_001034915.3:c.1488G>T, NM_001034915.2:c.1488G>T, NM_001122826.2:c.1488G>T, NM_001122826.1:c.1488G>T, NM_001122825.2:c.1488G>T, NM_001122825.1:c.1488G>T, NM_001122827.2:c.1488G>T, NM_001122827.1:c.1488G>T, XM_047421916.1:c.1488G>T, NP_060167.2:p.Lys496Asn, XP_005251048.1:p.Lys496Asn, NP_001030087.2:p.Lys496Asn, NP_001116298.1:p.Lys496Asn, NP_001116297.1:p.Lys496Asn, NP_001116299.1:p.Lys496Asn, XP_047277872.1:p.Lys496Asn

Select item 14755209138.

rs1475520913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:94678316 (GRCh38)
8:95690544 (GRCh37)
Canonical SPDI:: NC_000008.11:94678315:G:A
Gene:: ESRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.94678316G>A, NC_000008.10:g.95690544G>A, NM_017697.4:c.1765G>A, NM_017697.3:c.1765G>A, XM_005250991.4:c.1765G>A, XM_005250991.3:c.1765G>A, XM_005250991.2:c.1765G>A, XM_005250991.1:c.1765G>A, NM_001034915.3:c.1753G>A, NM_001034915.2:c.1753G>A, NM_001122826.2:c.1753G>A, NM_001122826.1:c.1753G>A, NM_001122825.2:c.1765G>A, NM_001122825.1:c.1765G>A, NM_001122827.2:c.1753G>A, NM_001122827.1:c.1753G>A, XM_047421916.1:c.1765G>A, NP_060167.2:p.Ala589Thr, XP_005251048.1:p.Ala589Thr, NP_001030087.2:p.Ala585Thr, NP_001116298.1:p.Ala585Thr, NP_001116297.1:p.Ala589Thr, NP_001116299.1:p.Ala585Thr, XP_047277872.1:p.Ala589Thr

Select item 14752711839.

rs1475271183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:94662515 (GRCh38)
8:95674743 (GRCh37)
Canonical SPDI:: NC_000008.11:94662514:G:A
Gene:: ESRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.94662515G>A, NC_000008.10:g.95674743G>A, NM_017697.4:c.604G>A, NM_017697.3:c.604G>A, XM_005250991.4:c.604G>A, XM_005250991.3:c.604G>A, XM_005250991.2:c.604G>A, XM_005250991.1:c.604G>A, NM_001034915.3:c.604G>A, NM_001034915.2:c.604G>A, NM_001122826.2:c.604G>A, NM_001122826.1:c.604G>A, NM_001122825.2:c.604G>A, NM_001122825.1:c.604G>A, NM_001122827.2:c.604G>A, NM_001122827.1:c.604G>A, XM_047421916.1:c.604G>A, NP_060167.2:p.Asp202Asn, XP_005251048.1:p.Asp202Asn, NP_001030087.2:p.Asp202Asn, NP_001116298.1:p.Asp202Asn, NP_001116297.1:p.Asp202Asn, NP_001116299.1:p.Asp202Asn, XP_047277872.1:p.Asp202Asn

Select item 147489867410.

rs1474898674 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:94641384 (GRCh38)
8:95653612 (GRCh37)
Canonical SPDI:: NC_000008.11:94641383:G:A
Gene:: ESRP1 (Varview), LINC02894 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.94641384G>A, NC_000008.10:g.95653612G>A, NM_017697.4:c.66G>A, NM_017697.3:c.66G>A, XM_005250991.4:c.66G>A, XM_005250991.3:c.66G>A, XM_005250991.2:c.66G>A, XM_005250991.1:c.66G>A, NM_001034915.3:c.66G>A, NM_001034915.2:c.66G>A, NM_001122826.2:c.66G>A, NM_001122826.1:c.66G>A, NM_001122825.2:c.66G>A, NM_001122825.1:c.66G>A, NM_001122827.2:c.66G>A, NM_001122827.1:c.66G>A, XM_047421916.1:c.66G>A

Select item 147481024611.

rs1474810246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:94662347 (GRCh38)
8:95674575 (GRCh37)
Canonical SPDI:: NC_000008.11:94662346:T:C
Gene:: ESRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.94662347T>C, NC_000008.10:g.95674575T>C, NM_017697.4:c.566T>C, NM_017697.3:c.566T>C, XM_005250991.4:c.566T>C, XM_005250991.3:c.566T>C, XM_005250991.2:c.566T>C, XM_005250991.1:c.566T>C, NM_001034915.3:c.566T>C, NM_001034915.2:c.566T>C, NM_001122826.2:c.566T>C, NM_001122826.1:c.566T>C, NM_001122825.2:c.566T>C, NM_001122825.1:c.566T>C, NM_001122827.2:c.566T>C, NM_001122827.1:c.566T>C, XM_047421916.1:c.566T>C, NP_060167.2:p.Leu189Ser, XP_005251048.1:p.Leu189Ser, NP_001030087.2:p.Leu189Ser, NP_001116298.1:p.Leu189Ser, NP_001116297.1:p.Leu189Ser, NP_001116299.1:p.Leu189Ser, XP_047277872.1:p.Leu189Ser

Select item 147377231212.

rs1473772312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:94671496 (GRCh38)
8:95683724 (GRCh37)
Canonical SPDI:: NC_000008.11:94671495:C:A
Gene:: ESRP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.94671496C>A, NC_000008.10:g.95683724C>A, NM_017697.4:c.1277C>A, NM_017697.3:c.1277C>A, XM_005250991.4:c.1277C>A, XM_005250991.3:c.1277C>A, XM_005250991.2:c.1277C>A, XM_005250991.1:c.1277C>A, NM_001034915.3:c.1277C>A, NM_001034915.2:c.1277C>A, NM_001122826.2:c.1277C>A, NM_001122826.1:c.1277C>A, NM_001122825.2:c.1277C>A, NM_001122825.1:c.1277C>A, NM_001122827.2:c.1277C>A, NM_001122827.1:c.1277C>A, XM_047421916.1:c.1277C>A, NP_060167.2:p.Thr426Asn, XP_005251048.1:p.Thr426Asn, NP_001030087.2:p.Thr426Asn, NP_001116298.1:p.Thr426Asn, NP_001116297.1:p.Thr426Asn, NP_001116299.1:p.Thr426Asn, XP_047277872.1:p.Thr426Asn

Select item 147017671313.

rs1470176713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:94641980 (GRCh38)
8:95654208 (GRCh37)
Canonical SPDI:: NC_000008.11:94641979:G:C
Gene:: ESRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.94641980G>C, NC_000008.10:g.95654208G>C, NM_017697.4:c.157G>C, NM_017697.3:c.157G>C, XM_005250991.4:c.157G>C, XM_005250991.3:c.157G>C, XM_005250991.2:c.157G>C, XM_005250991.1:c.157G>C, NM_001034915.3:c.157G>C, NM_001034915.2:c.157G>C, NM_001122826.2:c.157G>C, NM_001122826.1:c.157G>C, NM_001122825.2:c.157G>C, NM_001122825.1:c.157G>C, NM_001122827.2:c.157G>C, NM_001122827.1:c.157G>C, XM_047421916.1:c.157G>C, NP_060167.2:p.Val53Leu, XP_005251048.1:p.Val53Leu, NP_001030087.2:p.Val53Leu, NP_001116298.1:p.Val53Leu, NP_001116297.1:p.Val53Leu, NP_001116299.1:p.Val53Leu, XP_047277872.1:p.Val53Leu

Select item 146523935014.

rs1465239350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:94664958 (GRCh38)
8:95677186 (GRCh37)
Canonical SPDI:: NC_000008.11:94664957:G:A
Gene:: ESRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.94664958G>A, NC_000008.10:g.95677186G>A, NM_017697.4:c.787G>A, NM_017697.3:c.787G>A, XM_005250991.4:c.787G>A, XM_005250991.3:c.787G>A, XM_005250991.2:c.787G>A, XM_005250991.1:c.787G>A, NM_001034915.3:c.787G>A, NM_001034915.2:c.787G>A, NM_001122826.2:c.787G>A, NM_001122826.1:c.787G>A, NM_001122825.2:c.787G>A, NM_001122825.1:c.787G>A, NM_001122827.2:c.787G>A, NM_001122827.1:c.787G>A, XM_047421916.1:c.787G>A, NP_060167.2:p.Gly263Ser, XP_005251048.1:p.Gly263Ser, NP_001030087.2:p.Gly263Ser, NP_001116298.1:p.Gly263Ser, NP_001116297.1:p.Gly263Ser, NP_001116299.1:p.Gly263Ser, XP_047277872.1:p.Gly263Ser

Select item 146371386815.

rs1463713868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:94664733 (GRCh38)
8:95676961 (GRCh37)
Canonical SPDI:: NC_000008.11:94664732:C:T
Gene:: ESRP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.94664733C>T, NC_000008.10:g.95676961C>T, NM_017697.4:c.681C>T, NM_017697.3:c.681C>T, XM_005250991.4:c.681C>T, XM_005250991.3:c.681C>T, XM_005250991.2:c.681C>T, XM_005250991.1:c.681C>T, NM_001034915.3:c.681C>T, NM_001034915.2:c.681C>T, NM_001122826.2:c.681C>T, NM_001122826.1:c.681C>T, NM_001122825.2:c.681C>T, NM_001122825.1:c.681C>T, NM_001122827.2:c.681C>T, NM_001122827.1:c.681C>T, XM_047421916.1:c.681C>T

Select item 146308194916.

rs1463081949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:94671650 (GRCh38)
8:95683878 (GRCh37)
Canonical SPDI:: NC_000008.11:94671649:T:C
Gene:: ESRP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000008.11:g.94671650T>C, NC_000008.10:g.95683878T>C, NM_017697.4:c.1431T>C, NM_017697.3:c.1431T>C, XM_005250991.4:c.1431T>C, XM_005250991.3:c.1431T>C, XM_005250991.2:c.1431T>C, XM_005250991.1:c.1431T>C, NM_001034915.3:c.1431T>C, NM_001034915.2:c.1431T>C, NM_001122826.2:c.1431T>C, NM_001122826.1:c.1431T>C, NM_001122825.2:c.1431T>C, NM_001122825.1:c.1431T>C, NM_001122827.2:c.1431T>C, NM_001122827.1:c.1431T>C, XM_047421916.1:c.1431T>C

Select item 146254854817.

rs1462548548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:94671597 (GRCh38)
8:95683825 (GRCh37)
Canonical SPDI:: NC_000008.11:94671596:G:A
Gene:: ESRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.94671597G>A, NC_000008.10:g.95683825G>A, NM_017697.4:c.1378G>A, NM_017697.3:c.1378G>A, XM_005250991.4:c.1378G>A, XM_005250991.3:c.1378G>A, XM_005250991.2:c.1378G>A, XM_005250991.1:c.1378G>A, NM_001034915.3:c.1378G>A, NM_001034915.2:c.1378G>A, NM_001122826.2:c.1378G>A, NM_001122826.1:c.1378G>A, NM_001122825.2:c.1378G>A, NM_001122825.1:c.1378G>A, NM_001122827.2:c.1378G>A, NM_001122827.1:c.1378G>A, XM_047421916.1:c.1378G>A, NP_060167.2:p.Asp460Asn, XP_005251048.1:p.Asp460Asn, NP_001030087.2:p.Asp460Asn, NP_001116298.1:p.Asp460Asn, NP_001116297.1:p.Asp460Asn, NP_001116299.1:p.Asp460Asn, XP_047277872.1:p.Asp460Asn

Select item 146118762218.

rs1461187622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:94642013 (GRCh38)
8:95654241 (GRCh37)
Canonical SPDI:: NC_000008.11:94642012:T:C,NC_000008.11:94642012:T:G
Gene:: ESRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.94642013T>C, NC_000008.11:g.94642013T>G, NC_000008.10:g.95654241T>C, NC_000008.10:g.95654241T>G, NM_017697.4:c.190T>C, NM_017697.4:c.190T>G, NM_017697.3:c.190T>C, NM_017697.3:c.190T>G, XM_005250991.4:c.190T>C, XM_005250991.4:c.190T>G, XM_005250991.3:c.190T>C, XM_005250991.3:c.190T>G, XM_005250991.2:c.190T>C, XM_005250991.2:c.190T>G, XM_005250991.1:c.190T>C, XM_005250991.1:c.190T>G, NM_001034915.3:c.190T>C, NM_001034915.3:c.190T>G, NM_001034915.2:c.190T>C, NM_001034915.2:c.190T>G, NM_001122826.2:c.190T>C, NM_001122826.2:c.190T>G, NM_001122826.1:c.190T>C, NM_001122826.1:c.190T>G, NM_001122825.2:c.190T>C, NM_001122825.2:c.190T>G, NM_001122825.1:c.190T>C, NM_001122825.1:c.190T>G, NM_001122827.2:c.190T>C, NM_001122827.2:c.190T>G, NM_001122827.1:c.190T>C, NM_001122827.1:c.190T>G, XM_047421916.1:c.190T>C, XM_047421916.1:c.190T>G, NP_060167.2:p.Cys64Arg, NP_060167.2:p.Cys64Gly, XP_005251048.1:p.Cys64Arg, XP_005251048.1:p.Cys64Gly, NP_001030087.2:p.Cys64Arg, NP_001030087.2:p.Cys64Gly, NP_001116298.1:p.Cys64Arg, NP_001116298.1:p.Cys64Gly, NP_001116297.1:p.Cys64Arg, NP_001116297.1:p.Cys64Gly, NP_001116299.1:p.Cys64Arg, NP_001116299.1:p.Cys64Gly, XP_047277872.1:p.Cys64Arg, XP_047277872.1:p.Cys64Gly

Select item 145994166319.

rs1459941663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:94668077 (GRCh38)
8:95680305 (GRCh37)
Canonical SPDI:: NC_000008.11:94668076:G:A,NC_000008.11:94668076:G:C
Gene:: ESRP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.94668077G>A, NC_000008.11:g.94668077G>C, NC_000008.10:g.95680305G>A, NC_000008.10:g.95680305G>C, NM_017697.4:c.1060G>A, NM_017697.4:c.1060G>C, NM_017697.3:c.1060G>A, NM_017697.3:c.1060G>C, XM_005250991.4:c.1060G>A, XM_005250991.4:c.1060G>C, XM_005250991.3:c.1060G>A, XM_005250991.3:c.1060G>C, XM_005250991.2:c.1060G>A, XM_005250991.2:c.1060G>C, XM_005250991.1:c.1060G>A, XM_005250991.1:c.1060G>C, NM_001034915.3:c.1060G>A, NM_001034915.3:c.1060G>C, NM_001034915.2:c.1060G>A, NM_001034915.2:c.1060G>C, NM_001122826.2:c.1060G>A, NM_001122826.2:c.1060G>C, NM_001122826.1:c.1060G>A, NM_001122826.1:c.1060G>C, NM_001122825.2:c.1060G>A, NM_001122825.2:c.1060G>C, NM_001122825.1:c.1060G>A, NM_001122825.1:c.1060G>C, NM_001122827.2:c.1060G>A, NM_001122827.2:c.1060G>C, NM_001122827.1:c.1060G>A, NM_001122827.1:c.1060G>C, XM_047421916.1:c.1060G>A, XM_047421916.1:c.1060G>C, NP_060167.2:p.Gly354Arg, NP_060167.2:p.Gly354Arg, XP_005251048.1:p.Gly354Arg, XP_005251048.1:p.Gly354Arg, NP_001030087.2:p.Gly354Arg, NP_001030087.2:p.Gly354Arg, NP_001116298.1:p.Gly354Arg, NP_001116298.1:p.Gly354Arg, NP_001116297.1:p.Gly354Arg, NP_001116297.1:p.Gly354Arg, NP_001116299.1:p.Gly354Arg, NP_001116299.1:p.Gly354Arg, XP_047277872.1:p.Gly354Arg, XP_047277872.1:p.Gly354Arg

Select item 145659344020.

rs1456593440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:94668097 (GRCh38)
8:95680325 (GRCh37)
Canonical SPDI:: NC_000008.11:94668096:C:G
Gene:: ESRP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.94668097C>G, NC_000008.10:g.95680325C>G, NM_017697.4:c.1080C>G, NM_017697.3:c.1080C>G, XM_005250991.4:c.1080C>G, XM_005250991.3:c.1080C>G, XM_005250991.2:c.1080C>G, XM_005250991.1:c.1080C>G, NM_001034915.3:c.1080C>G, NM_001034915.2:c.1080C>G, NM_001122826.2:c.1080C>G, NM_001122826.1:c.1080C>G, NM_001122825.2:c.1080C>G, NM_001122825.1:c.1080C>G, NM_001122827.2:c.1080C>G, NM_001122827.1:c.1080C>G, XM_047421916.1:c.1080C>G

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Result Filters

Clinical Significance

Validation Status

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Annotation

Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 488

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