Linked Data
dbSNP Id:
rs370316987
ExAC:
2:31756485 C / T
gnomAD v2:
2-31756485-C-T
gnomAD v3:
2-31531415-C-T
gnomAD v4:
2-31531415-C-T
COSMIC:
COSN2382274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31531415C>T , CM000664.2:g.31531415C>T | GRCh38 |
| NC_000002.11:g.31756485C>T , CM000664.1:g.31756485C>T | GRCh37 |
| NC_000002.10:g.31609989C>T | NCBI36 |
| NG_008365.1:g.54557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.503G>A MANE Select | ENSP00000477587.1:p.Arg168His | |
| ENST00000622030.1:c.503G>A | ENSP00000477587.1:p.Arg168His | |
| NM_000348.3:c.503G>A | NP_000339.2:p.Arg168His | |
| XM_011533069.1:c.281G>A | XP_011531371.1:p.Arg94His | |
| XM_011533070.1:c.248G>A | XP_011531372.1:p.Arg83His | |
| XM_011533071.1:c.248G>A | XP_011531373.1:p.Arg83His | |
| XM_011533072.1:c.248G>A | XP_011531374.1:p.Arg83His | |
| XM_011533069.2:c.281G>A | XP_011531371.1:p.Arg94His | |
| XM_011533072.2:c.248G>A | XP_011531374.1:p.Arg83His | |
| NM_000348.4:c.503G>A MANE Select | NP_000339.2:p.Arg168His |