Linked Data
ClinVar Variation Id:
529238
ClinVar RCV Id:
RCV000634581
dbSNP Id:
rs767564684
ExAC:
2:31754455 G / T
gnomAD v2:
2-31754455-G-T
gnomAD v3:
2-31529385-G-T
gnomAD v4:
2-31529385-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529385G>T , CM000664.2:g.31529385G>T | GRCh38 |
| NC_000002.11:g.31754455G>T , CM000664.1:g.31754455G>T | GRCh37 |
| NC_000002.10:g.31607959G>T | NCBI36 |
| NG_008365.1:g.56587C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.620C>A MANE Select | ENSP00000477587.1:p.Ala207Asp | |
| ENST00000622030.1:c.620C>A | ENSP00000477587.1:p.Ala207Asp | |
| NM_000348.3:c.620C>A | NP_000339.2:p.Ala207Asp | |
| XM_011533069.1:c.398C>A | XP_011531371.1:p.Ala133Asp | |
| XM_011533070.1:c.365C>A | XP_011531372.1:p.Ala122Asp | |
| XM_011533071.1:c.365C>A | XP_011531373.1:p.Ala122Asp | |
| XM_011533072.1:c.365C>A | XP_011531374.1:p.Ala122Asp | |
| XM_011533069.2:c.398C>A | XP_011531371.1:p.Ala133Asp | |
| XM_011533072.2:c.365C>A | XP_011531374.1:p.Ala122Asp | |
| NM_000348.4:c.620C>A MANE Select | NP_000339.2:p.Ala207Asp |