Linked Data
ClinVar Variation Id:
2895523
ClinVar RCV Id:
RCV003638543
dbSNP Id:
rs778915564
ExAC:
1:173878958 C / A
gnomAD v2:
1-173878958-C-A
gnomAD v4:
1-173909820-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909820C>A , CM000663.2:g.173909820C>A | GRCh38 |
| NC_000001.10:g.173878958C>A , CM000663.1:g.173878958C>A | GRCh37 |
| NC_000001.9:g.172145581C>A | NCBI36 |
| NG_012462.1:g.12559G>T , LRG_577:g.12559G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.885G>T MANE Select | ENSP00000356671.3:p.Val295= | |
| ENST00000367698.3:c.885G>T | ENSP00000356671.3:p.Val295= | |
| ENST00000487183.1:n.536G>T | ||
| ENST00000617423.4:c.559+2044G>T | ENSP00000478688.1:n.559+2044G>T | |
| NM_000488.3:c.885G>T , LRG_577t1:c.885G>T | NP_000479.1:p.Val295= | |
| XM_005245198.2:c.741G>T | XP_005245255.1:p.Val247= | |
| NM_001365052.1:c.741G>T | NP_001351981.1:p.Val247= | |
| NM_000488.4:c.885G>T MANE Select | NP_000479.1:p.Val295= | |
| NM_001365052.2:c.741G>T | NP_001351981.1:p.Val247= | |
| NM_001386302.1:c.1008G>T | NP_001373231.1:p.Val336= | |
| NM_001386303.1:c.966G>T | NP_001373232.1:p.Val322= | |
| NM_001386304.1:c.864G>T | NP_001373233.1:p.Val288= | |
| NM_001386305.1:c.828G>T | NP_001373234.1:p.Val276= | |
| NM_001386306.1:c.669G>T | NP_001373235.1:p.Val223= |