Linked Data
ClinVar Variation Id:
498439
ClinVar RCV Id:
RCV000592049
dbSNP Id:
rs137906271
ExAC:
16:30998164 C / T
gnomAD v2:
16-30998164-C-T
gnomAD v3:
16-30986843-C-T
gnomAD v4:
16-30986843-C-T
COSMIC:
COSM1210043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30986843C>T , CM000678.2:g.30986843C>T | GRCh38 |
| NC_000016.9:g.30998164C>T , CM000678.1:g.30998164C>T | GRCh37 |
| NC_000016.8:g.30905665C>T | NCBI36 |
| NG_012346.1:g.6646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297679.10:c.535C>T MANE Select | ENSP00000297679.5:p.Arg179Cys | |
| ENST00000262520.10:c.531+139C>T | ENSP00000262520.6:n.531+139C>T | |
| ENST00000297679.9:c.535C>T | ENSP00000297679.5:p.Arg179Cys | |
| NM_001142777.1:c.531+139C>T | NP_001136249.1:n.531+139C>T | |
| NM_001142778.1:c.531+139C>T | NP_001136250.1:n.531+139C>T | |
| NM_025193.3:c.535C>T | NP_079469.2:p.Arg179Cys | |
| XM_005255601.3:c.535C>T | XP_005255658.2:p.Arg179Cys | |
| XM_011545960.1:c.535C>T | XP_011544262.1:p.Arg179Cys | |
| XM_011545961.1:c.535C>T | XP_011544263.1:p.Arg179Cys | |
| XM_011545962.1:c.531+139C>T | XP_011544264.1:n.531+139C>T | |
| XM_011545960.2:c.535C>T | XP_011544262.1:p.Arg179Cys | |
| XM_011545962.2:c.531+139C>T | XP_011544264.1:n.531+139C>T | |
| XM_017023732.1:c.531+139C>T | XP_016879221.1:n.531+139C>T | |
| NM_025193.4:c.535C>T MANE Select | NP_079469.2:p.Arg179Cys | |
| NM_001142777.2:c.531+139C>T | NP_001136249.1:n.531+139C>T | |
| NM_001142778.2:c.531+139C>T | NP_001136250.1:n.531+139C>T |