Linked Data
ClinVar Variation Id:
1519
ClinVar RCV Id:
RCV000001583
dbSNP Id:
rs118204056
gnomAD v3:
8-19954185-G-A
gnomAD v4:
8-19954185-G-A
PubMed:
PMID:2110364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954185G>A , CM000670.2:g.19954185G>A | GRCh38 |
| NC_000008.10:g.19811696G>A , CM000670.1:g.19811696G>A | GRCh37 |
| NC_000008.9:g.19855976G>A | NCBI36 |
| NG_008855.1:g.20115G>A | |
| NG_008855.2:g.57469G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.607G>A MANE Select | ENSP00000497642.1:p.Ala203Thr | |
| ENST00000311322.8:c.607G>A | ENSP00000309757.6:p.Ala203Thr | |
| NM_000237.2:c.607G>A | NP_000228.1:p.Ala203Thr | |
| NM_000237.3:c.607G>A MANE Select | NP_000228.1:p.Ala203Thr |