Linked Data
ClinVar Variation Id:
2712709
dbSNP Id:
rs146668975
ExAC:
5:176939185 G / A
gnomAD v2:
5-176939185-G-A
gnomAD v3:
5-177512184-G-A
gnomAD v4:
5-177512184-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177512184G>A , CM000667.2:g.177512184G>A | GRCh38 |
| NC_000005.9:g.176939185G>A , CM000667.1:g.176939185G>A | GRCh37 |
| NC_000005.8:g.176871791G>A | NCBI36 |
| NG_046846.1:g.10143C>T | |
| NG_046846.2:g.9778C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330503.12:c.1644C>T MANE Select | ENSP00000330349.8:p.Leu548= | |
| ENST00000507955.6:c.1791C>T | ENSP00000422753.2:n.1791C>T | |
| ENST00000650742.1:n.1627C>T | ||
| ENST00000652565.1:n.759C>T | ||
| ENST00000652618.1:n.1641C>T | ||
| ENST00000652623.1:n.1716C>T | ||
| ENST00000330503.11:c.1698C>T | ENSP00000330349.7:p.Leu566= | |
| ENST00000503078.5:n.1937C>T | ||
| ENST00000505081.5:n.2511C>T | ||
| ENST00000507900.5:n.1148C>T | ||
| ENST00000507955.5:c.1644C>T | ENSP00000422753.1:p.Leu548= | |
| ENST00000512334.5:n.247C>T | ||
| NM_016222.2:c.1644C>T | NP_057306.2:p.Leu548= | |
| XM_006714870.1:c.1266C>T | XP_006714933.1:p.Leu422= | |
| NM_001321732.1:c.1266C>T | NP_001308661.1:p.Leu422= | |
| NM_001321830.1:c.1266C>T | NP_001308759.1:p.Leu422= | |
| NM_016222.3:c.1644C>T | NP_057306.2:p.Leu548= | |
| XM_024446109.1:c.1287C>T | XP_024301877.1:p.Leu429= | |
| NM_016222.4:c.1644C>T MANE Select | NP_057306.2:p.Leu548= | |
| NM_001321732.2:c.1266C>T | NP_001308661.1:p.Leu422= | |
| NM_001321830.2:c.1266C>T | NP_001308759.1:p.Leu422= |