Linked Data
ClinVar Variation Id:
291491
dbSNP Id:
rs190728953
ExAC:
1:103343558 T / C
gnomAD v2:
1-103343558-T-C
gnomAD v3:
1-102878002-T-C
gnomAD v4:
1-102878002-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102878002T>C , CM000663.2:g.102878002T>C | GRCh38 |
| NC_000001.10:g.103343558T>C , CM000663.1:g.103343558T>C | GRCh37 |
| NC_000001.9:g.103116146T>C | NCBI36 |
| NG_008033.1:g.235495A>G | |
| NG_008033.2:g.235495A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.*17A>G MANE Select | ENSP00000359114.3:n.*17A>G | |
| ENST00000639098.1:n.811A>G | ||
| ENST00000353414.8:c.*17A>G | ENSP00000302551.6:n.*17A>G | |
| ENST00000358392.6:c.*17A>G | ENSP00000351163.2:n.*17A>G | |
| ENST00000370096.7:c.*17A>G | ENSP00000359114.3:n.*17A>G | |
| ENST00000470170.1:n.500A>G | ||
| ENST00000512756.5:c.*17A>G | ENSP00000426533.1:n.*17A>G | |
| ENST00000635193.1:c.4772A>G | ||
| NM_001190709.1:c.*17A>G | NP_001177638.1:n.*17A>G | |
| NM_001854.3:c.*17A>G | NP_001845.3:n.*17A>G | |
| NM_080629.2:c.*17A>G | NP_542196.2:n.*17A>G | |
| NM_080630.3:c.*17A>G | NP_542197.3:n.*17A>G | |
| XM_011540720.1:c.*17A>G | XP_011539022.1:n.*17A>G | |
| XM_011540721.1:c.*17A>G | XP_011539023.1:n.*17A>G | |
| NR_134980.1:n.5772A>G | ||
| XM_017000334.1:c.*17A>G | XP_016855823.1:n.*17A>G | |
| XM_017000335.1:c.*17A>G | XP_016855824.1:n.*17A>G | |
| XM_017000337.1:c.*17A>G | XP_016855826.1:n.*17A>G | |
| NM_001854.4:c.*17A>G MANE Select | NP_001845.3:n.*17A>G | |
| NM_080630.4:c.*17A>G | NP_542197.3:n.*17A>G | |
| NR_134980.2:n.5798A>G | ||
| NM_001190709.2:c.*17A>G | NP_001177638.1:n.*17A>G | |
| NM_080629.3:c.*17A>G | NP_542196.2:n.*17A>G |