Linked Data
ClinVar Variation Id:
376142
dbSNP Id:
rs376303676
gnomAD v4:
1-162759881-G-T
CIViC:
CA16602599
PubMed:
PMID:22328973
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162759881G>T , CM000663.2:g.162759881G>T | GRCh38 |
| NC_000001.10:g.162729671G>T , CM000663.1:g.162729671G>T | GRCh37 |
| NC_000001.9:g.160996295G>T | NCBI36 |
| NG_016290.1:g.132444G>T | |
| NG_016290.2:g.133669G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367921.8:c.757G>T MANE Select | ENSP00000356898.3:p.Gly253Cys | |
| ENST00000446985.6:c.757G>T | ENSP00000400309.2:p.Gly253Cys | |
| ENST00000672207.1:n.1143G>T | ||
| ENST00000367921.7:c.757G>T | ENSP00000356898.3:p.Gly253Cys | |
| ENST00000367922.7:c.757G>T | ENSP00000356899.2:p.Gly253Cys | |
| NM_001014796.1:c.757G>T | NP_001014796.1:p.Gly253Cys | |
| NM_006182.2:c.757G>T | NP_006173.2:p.Gly253Cys | |
| XM_006711344.2:c.757G>T | XP_006711407.1:p.Gly253Cys | |
| XM_011509586.1:c.757G>T | XP_011507888.1:p.Gly253Cys | |
| XM_011509587.1:c.757G>T | XP_011507889.1:p.Gly253Cys | |
| XM_011509588.1:c.757G>T | XP_011507890.1:p.Gly253Cys | |
| XM_011509589.1:c.757G>T | XP_011507891.1:p.Gly253Cys | |
| NM_001014796.2:c.757G>T | NP_001014796.1:p.Gly253Cys | |
| NM_001354982.1:c.757G>T | NP_001341911.1:p.Gly253Cys | |
| NM_001354983.1:c.757G>T | NP_001341912.1:p.Gly253Cys | |
| NM_006182.3:c.757G>T | NP_006173.2:p.Gly253Cys | |
| XM_011509587.2:c.757G>T | XP_011507889.1:p.Gly253Cys | |
| XM_011509588.3:c.757G>T | XP_011507890.1:p.Gly253Cys | |
| NM_006182.4:c.757G>T MANE Select | NP_006173.2:p.Gly253Cys | |
| NM_001014796.3:c.757G>T | NP_001014796.1:p.Gly253Cys | |
| NM_001354982.2:c.757G>T | NP_001341911.1:p.Gly253Cys | |
| NM_001354983.2:c.757G>T | NP_001341912.1:p.Gly253Cys |