SNP Links for Protein (Select 14602455) - SNP

Links from Protein

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Select item 14824929671.

rs1482492967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42383989 (GRCh38)
21:43804098 (GRCh37)
Canonical SPDI:: NC_000021.9:42383988:C:T
Gene:: TMPRSS3 (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_000021.9:g.42383989C>T, NC_000021.8:g.43804098C>T, NG_011629.2:g.17103G>A, NM_024022.4:c.597G>A, NM_024022.3:c.597G>A, NM_024022.2:c.597G>A, NM_001256317.3:c.597G>A, NM_001256317.2:c.597G>A, NM_001256317.1:c.597G>A, NM_032404.3:c.216G>A, NM_032404.2:c.216G>A, NM_032405.2:c.597G>A, NM_032405.1:c.597G>A, NR_046020.1:n.1553G>A, NM_032401.1:c.216G>A, NM_022364.1:c.600G>A, NR_027348.1:n.491G>A

Select item 14743124772.

rs1474312477 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:42375760 (GRCh38)
21:43795869 (GRCh37)
Canonical SPDI:: NC_000021.9:42375759:T:G
Gene:: TMPRSS3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42375760T>G, NC_000021.8:g.43795869T>G, NG_011629.2:g.25332A>C, NM_024022.4:c.1303A>C, NM_024022.3:c.1303A>C, NM_024022.2:c.1303A>C, NM_001256317.3:c.1300A>C, NM_001256317.2:c.1300A>C, NM_001256317.1:c.1300A>C, NM_032404.3:c.922A>C, NM_032404.2:c.922A>C, NR_046020.1:n.2259A>C, NM_032401.1:c.922A>C, NM_022364.1:c.1306A>C, NR_027348.1:n.1197A>C, NP_076927.1:p.Thr435Pro, NP_001243246.1:p.Thr434Pro, NP_115780.1:p.Thr308Pro

Select item 14723077433.

rs1472307743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42375854 (GRCh38)
21:43795963 (GRCh37)
Canonical SPDI:: NC_000021.9:42375853:C:T
Gene:: TMPRSS3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42375854C>T, NC_000021.8:g.43795963C>T, NG_011629.2:g.25238G>A, NM_024022.4:c.1209G>A, NM_024022.3:c.1209G>A, NM_024022.2:c.1209G>A, NM_001256317.3:c.1206G>A, NM_001256317.2:c.1206G>A, NM_001256317.1:c.1206G>A, NM_032404.3:c.828G>A, NM_032404.2:c.828G>A, NR_046020.1:n.2165G>A, NM_032401.1:c.828G>A, NM_022364.1:c.1212G>A, NR_027348.1:n.1103G>A

Select item 14620809034.

rs1462080903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:42376669 (GRCh38)
21:43796778 (GRCh37)
Canonical SPDI:: NC_000021.9:42376668:C:G
Gene:: TMPRSS3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42376669C>G, NC_000021.8:g.43796778C>G, NG_011629.2:g.24423G>C, NM_024022.4:c.1066G>C, NM_024022.3:c.1066G>C, NM_024022.2:c.1066G>C, NM_001256317.3:c.1063G>C, NM_001256317.2:c.1063G>C, NM_001256317.1:c.1063G>C, NM_032404.3:c.685G>C, NM_032404.2:c.685G>C, NR_046020.1:n.2022G>C, NM_032401.1:c.685G>C, NM_022364.1:c.1066G>C, NR_027348.1:n.960G>C, NP_076927.1:p.Val356Leu, NP_001243246.1:p.Val355Leu, NP_115780.1:p.Val229Leu

Select item 14594159395.

rs1459415939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:42375758 (GRCh38)
21:43795867 (GRCh37)
Canonical SPDI:: NC_000021.9:42375757:G:C
Gene:: TMPRSS3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42375758G>C, NC_000021.8:g.43795867G>C, NG_011629.2:g.25334C>G, NM_024022.4:c.1305C>G, NM_024022.3:c.1305C>G, NM_024022.2:c.1305C>G, NM_001256317.3:c.1302C>G, NM_001256317.2:c.1302C>G, NM_001256317.1:c.1302C>G, NM_032404.3:c.924C>G, NM_032404.2:c.924C>G, NR_046020.1:n.2261C>G, NM_032401.1:c.924C>G, NM_022364.1:c.1308C>G, NR_027348.1:n.1199C>G

Select item 14572302696.

rs1457230269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42388403 (GRCh38)
21:43808512 (GRCh37)
Canonical SPDI:: NC_000021.9:42388402:C:T
Gene:: TMPRSS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42388403C>T, NC_000021.8:g.43808512C>T, NG_011629.2:g.12689G>A, NM_024022.4:c.446G>A, NM_024022.3:c.446G>A, NM_024022.2:c.446G>A, NM_001256317.3:c.446G>A, NM_001256317.2:c.446G>A, NM_001256317.1:c.446G>A, NM_032404.3:c.65G>A, NM_032404.2:c.65G>A, NM_032405.2:c.446G>A, NM_032405.1:c.446G>A, NR_046020.1:n.1402G>A, NM_032401.1:c.65G>A, NM_022364.1:c.449G>A, NR_027348.1:n.340G>A, NP_076927.1:p.Ser149Asn, NP_001243246.1:p.Ser149Asn, NP_115780.1:p.Ser22Asn, NP_115781.1:p.Ser149Asn

Select item 14542450067.

rs1454245006 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42376542 (GRCh38)
21:43796651 (GRCh37)
Canonical SPDI:: NC_000021.9:42376541:T:C
Gene:: TMPRSS3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42376542T>C, NC_000021.8:g.43796651T>C, NG_011629.2:g.24550A>G, NM_024022.4:c.1193A>G, NM_024022.3:c.1193A>G, NM_024022.2:c.1193A>G, NM_001256317.3:c.1190A>G, NM_001256317.2:c.1190A>G, NM_001256317.1:c.1190A>G, NM_032404.3:c.812A>G, NM_032404.2:c.812A>G, NR_046020.1:n.2149A>G, NM_032401.1:c.812A>G, NM_022364.1:c.1196A>G, NR_027348.1:n.1087A>G, NP_076927.1:p.Gln398Arg, NP_001243246.1:p.Gln397Arg, NP_115780.1:p.Gln271Arg

Select item 14541431438.

rs1454143143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42382195 (GRCh38)
21:43802304 (GRCh37)
Canonical SPDI:: NC_000021.9:42382194:T:C
Gene:: TMPRSS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.42382195T>C, NC_000021.8:g.43802304T>C, NG_011629.2:g.18897A>G, NM_024022.4:c.822A>G, NM_024022.3:c.822A>G, NM_024022.2:c.822A>G, NM_001256317.3:c.822A>G, NM_001256317.2:c.822A>G, NM_001256317.1:c.822A>G, NM_032404.3:c.441A>G, NM_032404.2:c.441A>G, NM_032405.2:c.822A>G, NM_032405.1:c.822A>G, NR_046020.1:n.1778A>G, NM_032401.1:c.441A>G, NM_022364.1:c.825A>G, NR_027348.1:n.716A>G

Select item 14526287169.

rs1452628716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42385439 (GRCh38)
21:43805548 (GRCh37)
Canonical SPDI:: NC_000021.9:42385438:A:G
Gene:: TMPRSS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.42385439A>G, NC_000021.8:g.43805548A>G, NG_011629.2:g.15653T>C, NM_024022.4:c.542T>C, NM_024022.3:c.542T>C, NM_024022.2:c.542T>C, NM_001256317.3:c.542T>C, NM_001256317.2:c.542T>C, NM_001256317.1:c.542T>C, NM_032404.3:c.161T>C, NM_032404.2:c.161T>C, NM_032405.2:c.542T>C, NM_032405.1:c.542T>C, NR_046020.1:n.1498T>C, NM_032401.1:c.161T>C, NM_022364.1:c.545T>C, NR_027348.1:n.436T>C, NP_076927.1:p.Val181Ala, NP_001243246.1:p.Val181Ala, NP_115780.1:p.Val54Ala, NP_115781.1:p.Val181Ala

Select item 144970508810.

rs1449705088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:42383095 (GRCh38)
21:43803204 (GRCh37)
Canonical SPDI:: NC_000021.9:42383094:G:A,NC_000021.9:42383094:G:T
Gene:: TMPRSS3 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42383095G>A, NC_000021.9:g.42383095G>T, NC_000021.8:g.43803204G>A, NC_000021.8:g.43803204G>T, NG_011629.2:g.17997C>T, NG_011629.2:g.17997C>A, NM_024022.4:c.720C>T, NM_024022.4:c.720C>A, NM_024022.3:c.720C>T, NM_024022.3:c.720C>A, NM_024022.2:c.720C>T, NM_024022.2:c.720C>A, NM_001256317.3:c.720C>T, NM_001256317.3:c.720C>A, NM_001256317.2:c.720C>T, NM_001256317.2:c.720C>A, NM_001256317.1:c.720C>T, NM_001256317.1:c.720C>A, NM_032404.3:c.339C>T, NM_032404.3:c.339C>A, NM_032404.2:c.339C>T, NM_032404.2:c.339C>A, NM_032405.2:c.720C>T, NM_032405.2:c.720C>A, NM_032405.1:c.720C>T, NM_032405.1:c.720C>A, NR_046020.1:n.1676C>T, NR_046020.1:n.1676C>A, NM_032401.1:c.339C>T, NM_032401.1:c.339C>A, NM_022364.1:c.723C>T, NM_022364.1:c.723C>A, NR_027348.1:n.614C>T, NR_027348.1:n.614C>A, NP_076927.1:p.His240Gln, NP_001243246.1:p.His240Gln, NP_115780.1:p.His113Gln, NP_115781.1:p.His240Gln

Select item 144821271211.

rs1448212712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:42382178 (GRCh38)
21:43802287 (GRCh37)
Canonical SPDI:: NC_000021.9:42382177:T:C
Gene:: TMPRSS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42382178T>C, NC_000021.8:g.43802287T>C, NG_011629.2:g.18914A>G, NM_024022.4:c.839A>G, NM_024022.3:c.839A>G, NM_024022.2:c.839A>G, NM_001256317.3:c.839A>G, NM_001256317.2:c.839A>G, NM_001256317.1:c.839A>G, NM_032404.3:c.458A>G, NM_032404.2:c.458A>G, NM_032405.2:c.839A>G, NM_032405.1:c.839A>G, NR_046020.1:n.1795A>G, NM_032401.1:c.458A>G, NM_022364.1:c.842A>G, NR_027348.1:n.733A>G, NP_076927.1:p.Asn280Ser, NP_001243246.1:p.Asn280Ser, NP_115780.1:p.Asn153Ser, NP_115781.1:p.Asn280Ser

Select item 144815028712.

rs1448150287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42382077 (GRCh38)
21:43802186 (GRCh37)
Canonical SPDI:: NC_000021.9:42382076:G:A
Gene:: TMPRSS3 (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_000021.9:g.42382077G>A, NC_000021.8:g.43802186G>A, NG_011629.2:g.19015C>T, NM_024022.4:c.940C>T, NM_024022.3:c.940C>T, NM_024022.2:c.940C>T, NM_001256317.3:c.940C>T, NM_001256317.2:c.940C>T, NM_001256317.1:c.940C>T, NM_032404.3:c.559C>T, NM_032404.2:c.559C>T, NM_032405.2:c.940C>T, NM_032405.1:c.940C>T, NR_046020.1:n.1896C>T, NM_032401.1:c.559C>T, NM_022364.1:c.943C>T, NR_027348.1:n.834C>T, NP_076927.1:p.Leu314Phe, NP_001243246.1:p.Leu314Phe, NP_115780.1:p.Leu187Phe, NP_115781.1:p.Leu314Phe

Select item 144442684813.

rs1444426848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:42385499 (GRCh38)
21:43805608 (GRCh37)
Canonical SPDI:: NC_000021.9:42385498:A:G
Gene:: TMPRSS3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.42385499A>G, NC_000021.8:g.43805608A>G, NG_011629.2:g.15593T>C, NM_024022.4:c.482T>C, NM_024022.3:c.482T>C, NM_024022.2:c.482T>C, NM_001256317.3:c.482T>C, NM_001256317.2:c.482T>C, NM_001256317.1:c.482T>C, NM_032404.3:c.101T>C, NM_032404.2:c.101T>C, NM_032405.2:c.482T>C, NM_032405.1:c.482T>C, NR_046020.1:n.1438T>C, NM_032401.1:c.101T>C, NM_022364.1:c.485T>C, NR_027348.1:n.376T>C, NP_076927.1:p.Leu161Pro, NP_001243246.1:p.Leu161Pro, NP_115780.1:p.Leu34Pro, NP_115781.1:p.Leu161Pro

Select item 144391771414.

rs1443917714 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:42375811 (GRCh38)
21:43795920 (GRCh37)
Canonical SPDI:: NC_000021.9:42375810:C:T
Gene:: TMPRSS3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42375811C>T, NC_000021.8:g.43795920C>T, NG_011629.2:g.25281G>A, NM_024022.4:c.1252G>A, NM_024022.3:c.1252G>A, NM_024022.2:c.1252G>A, NM_001256317.3:c.1249G>A, NM_001256317.2:c.1249G>A, NM_001256317.1:c.1249G>A, NM_032404.3:c.871G>A, NM_032404.2:c.871G>A, NR_046020.1:n.2208G>A, NM_032401.1:c.871G>A, NM_022364.1:c.1255G>A, NR_027348.1:n.1146G>A, NP_076927.1:p.Ala418Thr, NP_001243246.1:p.Ala417Thr, NP_115780.1:p.Ala291Thr

Select item 144172891315.

rs1441728913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:42376601 (GRCh38)
21:43796710 (GRCh37)
Canonical SPDI:: NC_000021.9:42376600:G:A
Gene:: TMPRSS3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000021.9:g.42376601G>A, NC_000021.8:g.43796710G>A, NG_011629.2:g.24491C>T, NM_024022.4:c.1134C>T, NM_024022.3:c.1134C>T, NM_024022.2:c.1134C>T, NM_001256317.3:c.1131C>T, NM_001256317.2:c.1131C>T, NM_001256317.1:c.1131C>T, NM_032404.3:c.753C>T, NM_032404.2:c.753C>T, NR_046020.1:n.2090C>T, NM_032401.1:c.753C>T, NM_022364.1:c.1135C>T, NR_027348.1:n.1028C>T

Select item 143928845816.

rs1439288458 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 21:42383172 (GRCh38)
21:43803281 (GRCh37)
Canonical SPDI:: NC_000021.9:42383171:A:
Gene:: TMPRSS3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.42383172del, NC_000021.8:g.43803281del, NG_011629.2:g.17920del, NM_024022.4:c.643del, NM_024022.3:c.643del, NM_024022.2:c.643del, NM_001256317.3:c.643del, NM_001256317.2:c.643del, NM_001256317.1:c.643del, NM_032404.3:c.262del, NM_032404.2:c.262del, NM_032405.2:c.643del, NM_032405.1:c.643del, NR_046020.1:n.1599del, NM_032401.1:c.262del, NM_022364.1:c.646del, NR_027348.1:n.537del, NP_076927.1:p.Ser215fs, NP_001243246.1:p.Ser215fs, NP_115780.1:p.Ser88fs, NP_115781.1:p.Ser215fs

Select item 143634958917.

rs1436349589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:42380141 (GRCh38)
21:43800250 (GRCh37)
Canonical SPDI:: NC_000021.9:42380140:C:G,NC_000021.9:42380140:C:T
Gene:: TMPRSS3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000021.9:g.42380141C>G, NC_000021.9:g.42380141C>T, NC_000021.8:g.43800250C>G, NC_000021.8:g.43800250C>T, NG_011629.2:g.20951G>C, NG_011629.2:g.20951G>A, NM_024022.4:c.1024G>C, NM_024022.4:c.1024G>A, NM_024022.3:c.1024G>C, NM_024022.3:c.1024G>A, NM_024022.2:c.1024G>C, NM_024022.2:c.1024G>A, NM_001256317.3:c.1024G>C, NM_001256317.3:c.1024G>A, NM_001256317.2:c.1024G>C, NM_001256317.2:c.1024G>A, NM_001256317.1:c.1024G>C, NM_001256317.1:c.1024G>A, NM_032404.3:c.643G>C, NM_032404.3:c.643G>A, NM_032404.2:c.643G>C, NM_032404.2:c.643G>A, NR_046020.1:n.1980G>C, NR_046020.1:n.1980G>A, NM_032401.1:c.643G>C, NM_032401.1:c.643G>A, NM_022364.1:c.1027G>C, NM_022364.1:c.1027G>A, NR_027348.1:n.918G>C, NR_027348.1:n.918G>A, NP_076927.1:p.Gly342Arg, NP_076927.1:p.Gly342Arg, NP_001243246.1:p.Gly342Arg, NP_001243246.1:p.Gly342Arg, NP_115780.1:p.Gly215Arg, NP_115780.1:p.Gly215Arg

Select item 143139875618.

rs1431398756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:42380134 (GRCh38)
21:43800243 (GRCh37)
Canonical SPDI:: NC_000021.9:42380133:C:A,NC_000021.9:42380133:C:T
Gene:: TMPRSS3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.42380134C>A, NC_000021.9:g.42380134C>T, NC_000021.8:g.43800243C>A, NC_000021.8:g.43800243C>T, NG_011629.2:g.20958G>T, NG_011629.2:g.20958G>A, NM_024022.4:c.1031G>T, NM_024022.4:c.1031G>A, NM_024022.3:c.1031G>T, NM_024022.3:c.1031G>A, NM_024022.2:c.1031G>T, NM_024022.2:c.1031G>A, NM_001256317.3:c.1031G>T, NM_001256317.3:c.1031G>A, NM_001256317.2:c.1031G>T, NM_001256317.2:c.1031G>A, NM_001256317.1:c.1031G>T, NM_001256317.1:c.1031G>A, NM_032404.3:c.650G>T, NM_032404.3:c.650G>A, NM_032404.2:c.650G>T, NM_032404.2:c.650G>A, NR_046020.1:n.1987G>T, NR_046020.1:n.1987G>A, NM_032401.1:c.650G>T, NM_032401.1:c.650G>A, NM_022364.1:c.1034G>T, NM_022364.1:c.1034G>A, NR_027348.1:n.925G>T, NR_027348.1:n.925G>A, NP_076927.1:p.Gly344Val, NP_076927.1:p.Gly344Glu, NP_001243246.1:p.Gly344Val, NP_001243246.1:p.Gly344Glu, NP_115780.1:p.Gly217Val, NP_115780.1:p.Gly217Glu

Select item 143095265519.

rs1430952655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:42380152 (GRCh38)
21:43800261 (GRCh37)
Canonical SPDI:: NC_000021.9:42380151:C:A
Gene:: TMPRSS3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42380152C>A, NC_000021.8:g.43800261C>A, NG_011629.2:g.20940G>T, NM_024022.4:c.1013G>T, NM_024022.3:c.1013G>T, NM_024022.2:c.1013G>T, NM_001256317.3:c.1013G>T, NM_001256317.2:c.1013G>T, NM_001256317.1:c.1013G>T, NM_032404.3:c.632G>T, NM_032404.2:c.632G>T, NR_046020.1:n.1969G>T, NM_032401.1:c.632G>T, NM_022364.1:c.1016G>T, NR_027348.1:n.907G>T, NP_076927.1:p.Cys338Phe, NP_001243246.1:p.Cys338Phe, NP_115780.1:p.Cys211Phe

Select item 143078034320.

rs1430780343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:42383167 (GRCh38)
21:43803276 (GRCh37)
Canonical SPDI:: NC_000021.9:42383166:G:T
Gene:: TMPRSS3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.42383167G>T, NC_000021.8:g.43803276G>T, NG_011629.2:g.17925C>A, NM_024022.4:c.648C>A, NM_024022.3:c.648C>A, NM_024022.2:c.648C>A, NM_001256317.3:c.648C>A, NM_001256317.2:c.648C>A, NM_001256317.1:c.648C>A, NM_032404.3:c.267C>A, NM_032404.2:c.267C>A, NM_032405.2:c.648C>A, NM_032405.1:c.648C>A, NR_046020.1:n.1604C>A, NM_032401.1:c.267C>A, NM_022364.1:c.651C>A, NR_027348.1:n.542C>A

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