Linked Data
ClinVar Variation Id:
1397606
dbSNP Id:
rs150170739
ExAC:
2:121736059 G / A
gnomAD v2:
2-121736059-G-A
gnomAD v3:
2-120978483-G-A
gnomAD v4:
2-120978483-G-A
COSMIC:
COSM4084551
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120978483G>A , CM000664.2:g.120978483G>A | GRCh38 |
| NC_000002.11:g.121736059G>A , CM000664.1:g.121736059G>A | GRCh37 |
| NC_000002.10:g.121452529G>A | NCBI36 |
| NG_009030.1:g.186193G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.1367G>A MANE Select | ENSP00000354586.5:p.Arg456His | |
| ENST00000452319.6:c.1418G>A | ENSP00000390436.1:p.Arg473His | |
| ENST00000314490.15:c.431G>A | ENSP00000312694.12:p.Arg144His | |
| ENST00000341310.10:c.*466G>A | ENSP00000344473.6:n.*466G>A | |
| ENST00000361492.8:c.1418G>A | ENSP00000354586.4:p.Arg473His | |
| ENST00000435313.6:n.1392G>A | ||
| ENST00000437950.5:c.*517G>A | ENSP00000415773.1:n.*517G>A | |
| ENST00000438299.5:c.*517G>A | ENSP00000400593.1:n.*517G>A | |
| ENST00000445186.5:c.*517G>A | ENSP00000397488.1:n.*517G>A | |
| ENST00000452319.5:c.1418G>A | ENSP00000390436.1:p.Arg473His | |
| ENST00000452692.5:c.*466G>A | ENSP00000403715.1:n.*466G>A | |
| NM_005270.4:c.1418G>A | NP_005261.2:p.Arg473His | |
| XM_006712422.1:c.1367G>A | XP_006712485.1:p.Arg456His | |
| XM_011510969.1:c.1400G>A | XP_011509271.1:p.Arg467His | |
| XM_011510970.1:c.1277G>A | XP_011509272.1:p.Arg426His | |
| XM_011510971.1:c.1223G>A | XP_011509273.1:p.Arg408His | |
| XM_011510972.1:c.1223G>A | XP_011509274.1:p.Arg408His | |
| XM_011510973.1:c.1043G>A | XP_011509275.1:p.Arg348His | |
| XM_011510974.1:c.992G>A | XP_011509276.1:p.Arg331His | |
| XM_006712422.3:c.1367G>A | XP_006712485.1:p.Arg456His | |
| XM_011510969.2:c.1670G>A | XP_011509271.2:p.Arg557His | |
| XM_011510970.2:c.1277G>A | XP_011509272.1:p.Arg426His | |
| XM_011510971.2:c.1223G>A | XP_011509273.1:p.Arg408His | |
| XM_011510972.2:c.1319G>A | XP_011509274.2:p.Arg440His | |
| XM_011510973.2:c.1043G>A | XP_011509275.1:p.Arg348His | |
| XM_011510974.2:c.992G>A | XP_011509276.1:p.Arg331His | |
| XM_017003818.1:c.1619G>A | XP_016859307.1:p.Arg540His | |
| XM_024452794.1:c.1418G>A | XP_024308562.1:p.Arg473His | |
| XM_024452795.1:c.1418G>A | XP_024308563.1:p.Arg473His | |
| NM_001371271.1:c.1418G>A | NP_001358200.1:p.Arg473His | |
| NM_001374353.1:c.1367G>A MANE Select | NP_001361282.1:p.Arg456His | |
| NM_001374354.1:c.992G>A | NP_001361283.1:p.Arg331His | |
| NM_005270.5:c.1418G>A | NP_005261.2:p.Arg473His |