Linked Data
ClinVar Variation Id:
2650802
ClinVar RCV Id:
RCV003425567
dbSNP Id:
rs1486964877
gnomAD v2:
2-31758691-C-G
gnomAD v3:
2-31533621-C-G
gnomAD v4:
2-31533621-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31533621C>G , CM000664.2:g.31533621C>G | GRCh38 |
| NC_000002.11:g.31758691C>G , CM000664.1:g.31758691C>G | GRCh37 |
| NC_000002.10:g.31612195C>G | NCBI36 |
| NG_008365.1:g.52351G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.427G>C MANE Select | ENSP00000477587.1:p.Asp143His | |
| ENST00000622030.1:c.427G>C | ENSP00000477587.1:p.Asp143His | |
| NM_000348.3:c.427G>C | NP_000339.2:p.Asp143His | |
| XM_011533068.1:c.427G>C | XP_011531370.1:p.Asp143His | |
| XM_011533069.1:c.205G>C | XP_011531371.1:p.Asp69His | |
| XM_011533070.1:c.172G>C | XP_011531372.1:p.Asp58His | |
| XM_011533071.1:c.172G>C | XP_011531373.1:p.Asp58His | |
| XM_011533072.1:c.172G>C | XP_011531374.1:p.Asp58His | |
| XM_011533069.2:c.205G>C | XP_011531371.1:p.Asp69His | |
| XM_011533072.2:c.172G>C | XP_011531374.1:p.Asp58His | |
| NM_000348.4:c.427G>C MANE Select | NP_000339.2:p.Asp143His |