Linked Data
ClinVar Variation Id:
2573605
ClinVar RCV Id:
RCV003317941
dbSNP Id:
rs369271819
ExAC:
4:155526218 C / A
gnomAD v2:
4-155526218-C-A
gnomAD v3:
4-154605066-C-A
gnomAD v4:
4-154605066-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154605066C>A , CM000666.2:g.154605066C>A | GRCh38 |
| NC_000004.11:g.155526218C>A , CM000666.1:g.155526218C>A | GRCh37 |
| NC_000004.10:g.155745668C>A | NCBI36 |
| NG_008834.1:g.12685G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336098.8:c.1130G>T MANE Select | ENSP00000336829.3:p.Gly377Val | |
| ENST00000336098.7:c.1130G>T | ENSP00000336829.3:p.Gly377Val | |
| ENST00000404648.7:c.1130G>T | ENSP00000384860.3:p.Gly377Val | |
| ENST00000405164.5:c.1154G>T | ENSP00000384101.1:p.Gly385Val | |
| ENST00000407946.5:c.1154G>T | ENSP00000384552.1:p.Gly385Val | |
| ENST00000465913.1:n.678G>T | ||
| ENST00000492082.5:n.1672G>T | ||
| NM_000509.4:c.1130G>T | NP_000500.2:p.Gly377Val | |
| NM_000509.5:c.1130G>T | NP_000500.2:p.Gly377Val | |
| NM_021870.2:c.1130G>T | NP_068656.2:p.Gly377Val | |
| NM_021870.3:c.1130G>T MANE Select | NP_068656.2:p.Gly377Val | |
| NM_000509.6:c.1130G>T | NP_000500.2:p.Gly377Val |