Linked Data
ClinVar Variation Id:
391045
dbSNP Id:
rs749882923
ExAC:
4:6303262 G / A
gnomAD v2:
4-6303262-G-A
gnomAD v4:
4-6301535-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301535G>A , CM000666.2:g.6301535G>A | GRCh38 |
| NC_000004.11:g.6303262G>A , CM000666.1:g.6303262G>A | GRCh37 |
| NC_000004.10:g.6354163G>A | NCBI36 |
| NG_011700.1:g.36686G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1776G>A | ENSP00000507852.1:p.Val592= | |
| ENST00000683395.1:c.1717G>A | ||
| ENST00000684087.1:c.1740G>A | ENSP00000506978.1:p.Val580= | |
| ENST00000506362.2:c.1491G>A | ENSP00000424103.2:p.Val497= | |
| ENST00000673642.1:c.1399G>A | ENSP00000501242.1:n.1399G>A | |
| ENST00000673991.1:c.1776G>A | ENSP00000501033.1:p.Val592= | |
| ENST00000226760.5:c.1740G>A MANE Select | ENSP00000226760.1:p.Val580= | |
| ENST00000503569.5:c.1740G>A | ENSP00000423337.1:p.Val580= | |
| ENST00000507765.1:n.1925G>A | ||
| NM_001145853.1:c.1740G>A | NP_001139325.1:p.Val580= | |
| NM_006005.3:c.1740G>A MANE Select | NP_005996.2:p.Val580= | |
| XM_017008586.1:c.1749G>A | XP_016864075.1:p.Val583= |