Linked Data
ClinVar Variation Id:
197911
dbSNP Id:
rs150669855
ExAC:
1:103381192 C / A
gnomAD v2:
1-103381192-C-A
gnomAD v3:
1-102915636-C-A
gnomAD v4:
1-102915636-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102915636C>A , CM000663.2:g.102915636C>A | GRCh38 |
| NC_000001.10:g.103381192C>A , CM000663.1:g.103381192C>A | GRCh37 |
| NC_000001.9:g.103153780C>A | NCBI36 |
| NG_008033.1:g.197861G>T | |
| NG_008033.2:g.197861G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3811G>T MANE Select | ENSP00000359114.3:p.Val1271Leu | |
| ENST00000353414.8:c.3694G>T | ENSP00000302551.6:p.Val1232Leu | |
| ENST00000358392.6:c.3847G>T | ENSP00000351163.2:p.Val1283Leu | |
| ENST00000370096.7:c.3811G>T | ENSP00000359114.3:p.Val1271Leu | |
| ENST00000512756.5:c.3463G>T | ENSP00000426533.1:p.Val1155Leu | |
| ENST00000635193.1:c.3145G>T | ||
| NM_001190709.1:c.3694G>T | NP_001177638.1:p.Val1232Leu | |
| NM_001854.3:c.3811G>T | NP_001845.3:p.Val1271Leu | |
| NM_080629.2:c.3847G>T | NP_542196.2:p.Val1283Leu | |
| NM_080630.3:c.3463G>T | NP_542197.3:p.Val1155Leu | |
| XM_011540719.1:c.3811G>T | XP_011539021.1:p.Val1271Leu | |
| XM_011540720.1:c.2044G>T | XP_011539022.1:p.Val682Leu | |
| XM_011540721.1:c.1399G>T | XP_011539023.1:p.Val467Leu | |
| NR_134980.1:n.4145G>T | ||
| XM_017000334.1:c.3964G>T | XP_016855823.1:p.Val1322Leu | |
| XM_017000335.1:c.3958G>T | XP_016855824.1:p.Val1320Leu | |
| XM_017000336.1:c.3964G>T | XP_016855825.1:p.Val1322Leu | |
| XM_017000337.1:c.2362G>T | XP_016855826.1:p.Val788Leu | |
| NM_001854.4:c.3811G>T MANE Select | NP_001845.3:p.Val1271Leu | |
| NM_080630.4:c.3463G>T | NP_542197.3:p.Val1155Leu | |
| NR_134980.2:n.4171G>T | ||
| NM_001190709.2:c.3694G>T | NP_001177638.1:p.Val1232Leu | |
| NM_080629.3:c.3847G>T | NP_542196.2:p.Val1283Leu |