SNP Links for Protein (Select 16950591) - SNP

Links from Protein

Items: 1 to 20 of 187

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Select item 14822221011.

rs1482222101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:38932487 (GRCh38)
19:39423127 (GRCh37)
Canonical SPDI:: NC_000019.10:38932486:C:G
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38932487C>G, NC_000019.9:g.39423127C>G, NG_031865.1:g.3410G>C, NG_029222.1:g.6780C>G, NM_033362.4:c.204C>G, NM_033362.3:c.204C>G, NM_021107.1:c.204C>G, NM_033363.1:c.204C>G, NW_014040929.1:g.342159C>G

Select item 14711989252.

rs1471198925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:38932507 (GRCh38)
19:39423147 (GRCh37)
Canonical SPDI:: NC_000019.10:38932506:C:A
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.38932507C>A, NC_000019.9:g.39423147C>A, NG_031865.1:g.3390G>T, NG_029222.1:g.6800C>A, NM_033362.4:c.224C>A, NM_033362.3:c.224C>A, NM_021107.1:c.224C>A, NM_033363.1:c.224C>A, NW_014040929.1:g.342179C>A, NP_203526.1:p.Ser75Ter, NP_066930.1:p.Ser75Ter, NP_203527.1:p.Ser75Ter

Select item 14664641273.

rs1466464127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38932676 (GRCh38)
19:39423316 (GRCh37)
Canonical SPDI:: NC_000019.10:38932675:C:T
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.00006/2 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38932676C>T, NC_000019.9:g.39423316C>T, NG_031865.1:g.3221G>A, NG_029222.1:g.6969C>T, NM_033362.4:c.393C>T, NM_033362.3:c.393C>T, NM_021107.1:c.393C>T, NM_033363.1:c.393C>T, NW_014040929.1:g.342348C>T

Select item 14647372544.

rs1464737254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38932629 (GRCh38)
19:39423269 (GRCh37)
Canonical SPDI:: NC_000019.10:38932628:C:T
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38932629C>T, NC_000019.9:g.39423269C>T, NG_031865.1:g.3268G>A, NG_029222.1:g.6922C>T, NM_033362.4:c.346C>T, NM_033362.3:c.346C>T, NM_021107.1:c.346C>T, NM_033363.1:c.346C>T, NW_014040929.1:g.342301C>T, NP_203526.1:p.Gln116Ter, NP_066930.1:p.Gln116Ter, NP_203527.1:p.Gln116Ter

Select item 14589569205.

rs1458956920 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGGTGTGGTCCTGTGCA>- [Show Flanks]
Chromosome:: 19:38932459 (GRCh38)
19:39423099 (GRCh37)
Canonical SPDI:: NC_000019.10:38932457:AAGGGTGTGGTCCTGTGCA:A
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: inframe_deletion,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38932459_38932476del, NC_000019.9:g.39423099_39423116del, NG_031865.1:g.3422_3439del, NG_029222.1:g.6752_6769del, NM_033362.4:c.176_193del, NM_033362.3:c.176_193del, NM_021107.1:c.176_193del, NM_033363.1:c.176_193del, NW_014040929.1:g.342131_342148del, NP_203526.1:p.Lys59_Cys64del, NP_066930.1:p.Lys59_Cys64del, NP_203527.1:p.Lys59_Cys64del

Select item 14350448316.

rs1435044831 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:38932608 (GRCh38)
19:39423249 (GRCh37)
Canonical SPDI:: NC_000019.10:38932608:TT:TTT
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38932610dup, NC_000019.9:g.39423250dup, NG_031865.1:g.3288dup, NG_029222.1:g.6903dup, NM_033362.4:c.327dup, NM_033362.3:c.327dup, NM_021107.1:c.327dup, NM_033363.1:c.327dup, NW_014040929.1:g.342282dup, NP_203526.1:p.Val110fs, NP_066930.1:p.Val110fs, NP_203527.1:p.Val110fs

Select item 14324976477.

rs1432497647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38932496 (GRCh38)
19:39423136 (GRCh37)
Canonical SPDI:: NC_000019.10:38932495:G:A
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_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_000019.10:g.38932496G>A, NC_000019.9:g.39423136G>A, NG_031865.1:g.3401C>T, NG_029222.1:g.6789G>A, NM_033362.4:c.213G>A, NM_033362.3:c.213G>A, NM_021107.1:c.213G>A, NM_033363.1:c.213G>A, NW_014040929.1:g.342168G>A

Select item 14301167928.

rs1430116792 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 19:38932679 (GRCh38)
19:39423319 (GRCh37)
Canonical SPDI:: NC_000019.10:38932676:TGTG:TG
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38932677TG[1], NC_000019.9:g.39423317TG[1], NG_031865.1:g.3217CA[1], NG_029222.1:g.6970TG[1], NM_033362.4:c.396_397del, NM_033362.3:c.396_397del, NM_021107.1:c.396_397del, NM_033363.1:c.396_397del, NW_014040929.1:g.342349TG[1], NP_203526.1:p.Cys132fs, NP_066930.1:p.Cys132fs, NP_203527.1:p.Cys132fs

Select item 14111718089.

rs1411171808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38932579 (GRCh38)
19:39423219 (GRCh37)
Canonical SPDI:: NC_000019.10:38932578:G:A
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38932579G>A, NC_000019.9:g.39423219G>A, NG_031865.1:g.3318C>T, NG_029222.1:g.6872G>A, NM_033362.4:c.296G>A, NM_033362.3:c.296G>A, NM_021107.1:c.296G>A, NM_033363.1:c.296G>A, NW_014040929.1:g.342251G>A, NP_203526.1:p.Gly99Asp, NP_066930.1:p.Gly99Asp, NP_203527.1:p.Gly99Asp

Select item 140749030110.

rs1407490301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:38932464 (GRCh38)
19:39423104 (GRCh37)
Canonical SPDI:: NC_000019.10:38932463:G:A,NC_000019.10:38932463:G:C
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38932464G>A, NC_000019.10:g.38932464G>C, NC_000019.9:g.39423104G>A, NC_000019.9:g.39423104G>C, NG_031865.1:g.3433C>T, NG_031865.1:g.3433C>G, NG_029222.1:g.6757G>A, NG_029222.1:g.6757G>C, NM_033362.4:c.181G>A, NM_033362.4:c.181G>C, NM_033362.3:c.181G>A, NM_033362.3:c.181G>C, NM_021107.1:c.181G>A, NM_021107.1:c.181G>C, NM_033363.1:c.181G>A, NM_033363.1:c.181G>C, NW_014040929.1:g.342136G>A, NW_014040929.1:g.342136G>C, NP_203526.1:p.Val61Met, NP_203526.1:p.Val61Leu, NP_066930.1:p.Val61Met, NP_066930.1:p.Val61Leu, NP_203527.1:p.Val61Met, NP_203527.1:p.Val61Leu

Select item 140273446911.

rs1402734469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38931303 (GRCh38)
19:39421943 (GRCh37)
Canonical SPDI:: NC_000019.10:38931302:G:A
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,stop_gained,coding_sequence_variant
HGVS:: NC_000019.10:g.38931303G>A, NC_000019.9:g.39421943G>A, NG_031865.1:g.4594C>T, NG_029222.1:g.5596G>A, NM_033362.4:c.9G>A, NM_033362.3:c.9G>A, NM_021107.1:c.9G>A, NM_033363.1:c.9G>A, NW_014040929.1:g.340975G>A, NP_203526.1:p.Trp3Ter, NP_066930.1:p.Trp3Ter, NP_203527.1:p.Trp3Ter

Select item 136687886312.

rs1366878863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38932339 (GRCh38)
19:39422979 (GRCh37)
Canonical SPDI:: NC_000019.10:38932338:C:T
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.38932339C>T, NC_000019.9:g.39422979C>T, NG_031865.1:g.3558G>A, NG_029222.1:g.6632C>T, NM_033362.4:c.56C>T, NM_033362.3:c.56C>T, NM_021107.1:c.56C>T, NM_033363.1:c.56C>T, NW_014040929.1:g.342011C>T, NP_203526.1:p.Ala19Val, NP_066930.1:p.Ala19Val, NP_203527.1:p.Ala19Val

Select item 136675586013.

rs1366755860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38932536 (GRCh38)
19:39423176 (GRCh37)
Canonical SPDI:: NC_000019.10:38932535:C:T
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
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_000019.10:g.38932536C>T, NC_000019.9:g.39423176C>T, NG_031865.1:g.3361G>A, NG_029222.1:g.6829C>T, NM_033362.4:c.253C>T, NM_033362.3:c.253C>T, NM_021107.1:c.253C>T, NM_033363.1:c.253C>T, NW_014040929.1:g.342208C>T, NP_203526.1:p.Leu85Phe, NP_066930.1:p.Leu85Phe, NP_203527.1:p.Leu85Phe

Select item 136226595914.

rs1362265959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:38932594 (GRCh38)
19:39423234 (GRCh37)
Canonical SPDI:: NC_000019.10:38932593:A:C
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38932594A>C, NC_000019.9:g.39423234A>C, NG_031865.1:g.3303T>G, NG_029222.1:g.6887A>C, NM_033362.4:c.311A>C, NM_033362.3:c.311A>C, NM_021107.1:c.311A>C, NM_033363.1:c.311A>C, NW_014040929.1:g.342266A>C, NP_203526.1:p.Glu104Ala, NP_066930.1:p.Glu104Ala, NP_203527.1:p.Glu104Ala

Select item 135901703915.

rs1359017039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:38932450 (GRCh38)
19:39423090 (GRCh37)
Canonical SPDI:: NC_000019.10:38932449:C:A,NC_000019.10:38932449:C:T
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.38932450C>A, NC_000019.10:g.38932450C>T, NC_000019.9:g.39423090C>A, NC_000019.9:g.39423090C>T, NG_031865.1:g.3447G>T, NG_031865.1:g.3447G>A, NG_029222.1:g.6743C>A, NG_029222.1:g.6743C>T, NM_033362.4:c.167C>A, NM_033362.4:c.167C>T, NM_033362.3:c.167C>A, NM_033362.3:c.167C>T, NM_021107.1:c.167C>A, NM_021107.1:c.167C>T, NM_033363.1:c.167C>A, NM_033363.1:c.167C>T, NW_014040929.1:g.342122C>A, NW_014040929.1:g.342122C>T, NP_203526.1:p.Pro56Gln, NP_203526.1:p.Pro56Leu, NP_066930.1:p.Pro56Gln, NP_066930.1:p.Pro56Leu, NP_203527.1:p.Pro56Gln, NP_203527.1:p.Pro56Leu

Select item 135692138416.

rs1356921384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38932462 (GRCh38)
19:39423102 (GRCh37)
Canonical SPDI:: NC_000019.10:38932461:G:A
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38932462G>A, NC_000019.9:g.39423102G>A, NG_031865.1:g.3435C>T, NG_029222.1:g.6755G>A, NM_033362.4:c.179G>A, NM_033362.3:c.179G>A, NM_021107.1:c.179G>A, NM_033363.1:c.179G>A, NW_014040929.1:g.342134G>A, NP_203526.1:p.Gly60Asp, NP_066930.1:p.Gly60Asp, NP_203527.1:p.Gly60Asp

Select item 135467696217.

rs1354676962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38932530 (GRCh38)
19:39423170 (GRCh37)
Canonical SPDI:: NC_000019.10:38932529:G:A
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38932530G>A, NC_000019.9:g.39423170G>A, NG_031865.1:g.3367C>T, NG_029222.1:g.6823G>A, NM_033362.4:c.247G>A, NM_033362.3:c.247G>A, NM_021107.1:c.247G>A, NM_033363.1:c.247G>A, NW_014040929.1:g.342202G>A, NP_203526.1:p.Val83Met, NP_066930.1:p.Val83Met, NP_203527.1:p.Val83Met

Select item 135054283818.

rs1350542838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38932474 (GRCh38)
19:39423114 (GRCh37)
Canonical SPDI:: NC_000019.10:38932473:G:A
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.38932474G>A, NC_000019.9:g.39423114G>A, NG_031865.1:g.3423C>T, NG_029222.1:g.6767G>A, NM_033362.4:c.191G>A, NM_033362.3:c.191G>A, NM_021107.1:c.191G>A, NM_033363.1:c.191G>A, NW_014040929.1:g.342146G>A, NP_203526.1:p.Cys64Tyr, NP_066930.1:p.Cys64Tyr, NP_203527.1:p.Cys64Tyr

Select item 134598366019.

rs1345983660 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:38932685 (GRCh38)
19:39423325 (GRCh37)
Canonical SPDI:: NC_000019.10:38932684:C:
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.38932685del, NC_000019.9:g.39423325del, NG_031865.1:g.3212del, NG_029222.1:g.6978del, NM_033362.4:c.402del, NM_033362.3:c.402del, NM_021107.1:c.402del, NM_033363.1:c.402del, NW_014040929.1:g.342357del, NP_203526.1:p.His134fs, NP_066930.1:p.His134fs, NP_203527.1:p.His134fs

Select item 134168639520.

rs1341686395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:38932607 (GRCh38)
19:39423247 (GRCh37)
Canonical SPDI:: NC_000019.10:38932606:C:A,NC_000019.10:38932606:C:T
Gene:: MRPS12 (Varview), SARS2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38932607C>A, NC_000019.10:g.38932607C>T, NC_000019.9:g.39423247C>A, NC_000019.9:g.39423247C>T, NG_031865.1:g.3290G>T, NG_031865.1:g.3290G>A, NG_029222.1:g.6900C>A, NG_029222.1:g.6900C>T, NM_033362.4:c.324C>A, NM_033362.4:c.324C>T, NM_033362.3:c.324C>A, NM_033362.3:c.324C>T, NM_021107.1:c.324C>A, NM_021107.1:c.324C>T, NM_033363.1:c.324C>A, NM_033363.1:c.324C>T, NW_014040929.1:g.342279C>A, NW_014040929.1:g.342279C>T

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