Linked Data
ClinVar Variation Id:
402558
ClinVar RCV Id:
RCV000454637
dbSNP Id:
rs1048971
ExAC:
1:207646322 G / A
gnomAD v2:
1-207646322-G-A
gnomAD v3:
1-207472977-G-A
gnomAD v4:
1-207472977-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207472977G>A , CM000663.2:g.207472977G>A | GRCh38 |
| NC_000001.10:g.207646322G>A , CM000663.1:g.207646322G>A | GRCh37 |
| NC_000001.9:g.205712945G>A | NCBI36 |
| NG_013006.1:g.23678G>A , LRG_348:g.23678G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699620.1:c.1407G>A | ENSP00000514480.1:p.Leu469= | |
| ENST00000699621.1:c.1396G>A | ||
| ENST00000367057.8:c.1776G>A MANE Select | ENSP00000356024.3:p.Leu592= | |
| ENST00000367057.7:c.1776G>A | ENSP00000356024.3:p.Leu592= | |
| ENST00000367058.7:c.1776G>A | ENSP00000356025.3:p.Leu592= | |
| ENST00000367059.3:c.1776G>A | ENSP00000356026.3:p.Leu592= | |
| NM_001006658.2:c.1776G>A , LRG_348t1:c.1776G>A | NP_001006659.1:p.Leu592= | |
| NM_001877.4:c.1776G>A | NP_001868.2:p.Leu592= | |
| XM_011509206.1:c.1407G>A | XP_011507508.1:p.Leu469= | |
| XM_011509206.3:c.1407G>A | XP_011507508.1:p.Leu469= | |
| NM_001006658.3:c.1776G>A MANE Select | NP_001006659.1:p.Leu592= | |
| NM_001877.5:c.1776G>A | NP_001868.2:p.Leu592= |