Linked Data
ClinVar Variation Id:
2532062
ClinVar RCV Id:
RCV004305883
dbSNP Id:
rs1235718133
gnomAD v2:
1-59248184-C-A
gnomAD v4:
1-58782512-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782512C>A , CM000663.2:g.58782512C>A | GRCh38 |
| NC_000001.10:g.59248184C>A , CM000663.1:g.59248184C>A | GRCh37 |
| NC_000001.9:g.59020772C>A | NCBI36 |
| NG_047027.1:g.6602G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.625G>T | ENSP00000518166.1:p.Ala209Ser | |
| ENST00000371222.4:c.559G>T MANE Select | ENSP00000360266.2:p.Ala187Ser | |
| ENST00000678696.1:c.559G>T | ENSP00000503132.1:p.Ala187Ser | |
| ENST00000371222.3:c.559G>T | ENSP00000360266.2:p.Ala187Ser | |
| NM_002228.3:c.559G>T | NP_002219.1:p.Ala187Ser | |
| NM_002228.4:c.559G>T MANE Select | NP_002219.1:p.Ala187Ser |