Linked Data
ClinVar Variation Id:
543498
dbSNP Id:
rs754081921
ExAC:
19:40903130 C / A
gnomAD v2:
19-40903130-C-A
gnomAD v3:
19-40397223-C-A
gnomAD v4:
19-40397223-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40397223C>A , CM000681.2:g.40397223C>A | GRCh38 |
| NC_000019.9:g.40903130C>A , CM000681.1:g.40903130C>A | GRCh37 |
| NC_000019.8:g.45594970C>A | NCBI36 |
| NG_007979.1:g.21142G>T , LRG_265:g.21142G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.1129G>T MANE Select | ENSP00000326018.6:p.Val377Leu | |
| ENST00000673881.1:c.712G>T | ENSP00000501070.1:p.Val238Leu | |
| ENST00000674005.2:c.1414G>T | ENSP00000501261.1:p.Val472Leu | |
| ENST00000674773.1:c.712G>T | ENSP00000502579.1:p.Val238Leu | |
| ENST00000675517.1:c.1004G>T | ||
| ENST00000676076.1:c.990G>T | ||
| ENST00000676260.1:c.1091G>T | ||
| ENST00000676316.1:c.1016G>T | ||
| ENST00000291825.11:c.*1334G>T | ENSP00000291825.6:n.*1334G>T | |
| ENST00000324001.7:c.1129G>T | ENSP00000326018.6:p.Val377Leu | |
| NM_020956.2:c.*1334G>T , LRG_265t1:c.*1334G>T | NP_066007.1:n.*1334G>T | |
| NM_181882.2:c.1129G>T , LRG_265t2:c.1129G>T | NP_870998.2:p.Val377Leu | |
| XM_011527171.1:c.1129G>T | XP_011525473.1:p.Val377Leu | |
| XM_011527171.2:c.1129G>T | XP_011525473.1:p.Val377Leu | |
| XM_017027046.1:c.1027G>T | XP_016882535.1:p.Val343Leu | |
| XM_017027047.1:c.1027G>T | XP_016882536.1:p.Val343Leu | |
| NM_181882.3:c.1129G>T MANE Select | NP_870998.2:p.Val377Leu |