Linked Data
ClinVar Variation Id:
293839
ClinVar RCV Id:
RCV000306901
dbSNP Id:
rs370190321
ExAC:
1:173878973 G / A
gnomAD v2:
1-173878973-G-A
gnomAD v3:
1-173909835-G-A
gnomAD v4:
1-173909835-G-A
ERepo:
CA1251325/MONDO:0013144/084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909835G>A , CM000663.2:g.173909835G>A | GRCh38 |
| NC_000001.10:g.173878973G>A , CM000663.1:g.173878973G>A | GRCh37 |
| NC_000001.9:g.172145596G>A | NCBI36 |
| NG_012462.1:g.12544C>T , LRG_577:g.12544C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.870C>T MANE Select | ENSP00000356671.3:p.Phe290= | |
| ENST00000367698.3:c.870C>T | ENSP00000356671.3:p.Phe290= | |
| ENST00000487183.1:n.521C>T | ||
| ENST00000617423.4:c.559+2029C>T | ENSP00000478688.1:n.559+2029C>T | |
| NM_000488.3:c.870C>T , LRG_577t1:c.870C>T | NP_000479.1:p.Phe290= | |
| XM_005245198.2:c.726C>T | XP_005245255.1:p.Phe242= | |
| NM_001365052.1:c.726C>T | NP_001351981.1:p.Phe242= | |
| NM_000488.4:c.870C>T MANE Select | NP_000479.1:p.Phe290= | |
| NM_001365052.2:c.726C>T | NP_001351981.1:p.Phe242= | |
| NM_001386302.1:c.993C>T | NP_001373231.1:p.Phe331= | |
| NM_001386303.1:c.951C>T | NP_001373232.1:p.Phe317= | |
| NM_001386304.1:c.849C>T | NP_001373233.1:p.Phe283= | |
| NM_001386305.1:c.813C>T | NP_001373234.1:p.Phe271= | |
| NM_001386306.1:c.654C>T | NP_001373235.1:p.Phe218= |