Linked Data
ClinVar Variation Id:
2501393
ClinVar RCV Id:
RCV003227188
dbSNP Id:
rs780448796
ExAC:
2:31758690 T / A
gnomAD v2:
2-31758690-T-A
gnomAD v3:
2-31533620-T-A
gnomAD v4:
2-31533620-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31533620T>A , CM000664.2:g.31533620T>A | GRCh38 |
| NC_000002.11:g.31758690T>A , CM000664.1:g.31758690T>A | GRCh37 |
| NC_000002.10:g.31612194T>A | NCBI36 |
| NG_008365.1:g.52352A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.428A>T MANE Select | ENSP00000477587.1:p.Asp143Val | |
| ENST00000622030.1:c.428A>T | ENSP00000477587.1:p.Asp143Val | |
| NM_000348.3:c.428A>T | NP_000339.2:p.Asp143Val | |
| XM_011533068.1:c.428A>T | XP_011531370.1:p.Asp143Val | |
| XM_011533069.1:c.206A>T | XP_011531371.1:p.Asp69Val | |
| XM_011533070.1:c.173A>T | XP_011531372.1:p.Asp58Val | |
| XM_011533071.1:c.173A>T | XP_011531373.1:p.Asp58Val | |
| XM_011533072.1:c.173A>T | XP_011531374.1:p.Asp58Val | |
| XM_011533069.2:c.206A>T | XP_011531371.1:p.Asp69Val | |
| XM_011533072.2:c.173A>T | XP_011531374.1:p.Asp58Val | |
| NM_000348.4:c.428A>T MANE Select | NP_000339.2:p.Asp143Val |