Linked Data
ClinVar Variation Id:
448123
dbSNP Id:
rs367680077
ExAC:
3:64142844 G / A
gnomAD v2:
3-64142844-G-A
gnomAD v3:
3-64157168-G-A
gnomAD v4:
3-64157168-G-A
COSMIC:
COSM1263031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.64157168G>A , CM000665.2:g.64157168G>A | GRCh38 |
| NC_000003.11:g.64142844G>A , CM000665.1:g.64142844G>A | GRCh37 |
| NC_000003.10:g.64117884G>A | NCBI36 |
| NG_031930.1:g.73288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295902.11:c.762C>T | ENSP00000295902.7:p.Cys254= | |
| ENST00000564377.6:c.594C>T | ENSP00000455004.2:p.Cys198= | |
| ENST00000638394.2:c.594C>T MANE Select | ENSP00000492363.1:p.Cys198= | |
| ENST00000640303.1:n.1233C>T | ||
| ENST00000295902.10:c.594C>T | ENSP00000295902.6:p.Cys198= | |
| ENST00000564377.5:c.762C>T | ENSP00000455004.1:p.Cys254= | |
| NM_198859.3:c.594C>T | NP_942559.1:p.Cys198= | |
| XM_011533432.1:c.870C>T | XP_011531734.1:p.Cys290= | |
| XM_011533433.1:c.870C>T | XP_011531735.1:p.Cys290= | |
| XM_011533434.1:c.762C>T | XP_011531736.1:p.Cys254= | |
| XM_011533435.1:c.762C>T | XP_011531737.1:p.Cys254= | |
| XM_011533436.1:c.594C>T | XP_011531738.1:p.Cys198= | |
| XM_011533437.1:c.594C>T | XP_011531739.1:p.Cys198= | |
| XM_011533438.1:c.243C>T | XP_011531740.1:p.Cys81= | |
| XM_011533439.1:c.594C>T | XP_011531741.1:p.Cys198= | |
| XM_011533440.1:c.870C>T | XP_011531742.1:p.Cys290= | |
| XM_011533432.2:c.870C>T | XP_011531734.1:p.Cys290= | |
| XM_011533433.2:c.870C>T | XP_011531735.1:p.Cys290= | |
| XM_011533434.2:c.762C>T | XP_011531736.1:p.Cys254= | |
| XM_011533435.2:c.762C>T | XP_011531737.1:p.Cys254= | |
| XM_011533436.3:c.594C>T | XP_011531738.1:p.Cys198= | |
| XM_011533437.2:c.594C>T | XP_011531739.1:p.Cys198= | |
| XM_011533438.2:c.243C>T | XP_011531740.1:p.Cys81= | |
| XM_011533440.2:c.870C>T | XP_011531742.1:p.Cys290= | |
| XM_017005798.1:c.594C>T | XP_016861287.1:p.Cys198= | |
| XM_017005799.1:c.222C>T | XP_016861288.1:p.Cys74= | |
| NM_198859.4:c.594C>T MANE Select | NP_942559.1:p.Cys198= | |
| NM_001370528.1:c.594C>T | NP_001357457.1:p.Cys198= |