Linked Data
ClinVar Variation Id:
1430174
ClinVar RCV Id:
RCV001931374
dbSNP Id:
rs760611511
ExAC:
16:16244598 G / A
gnomAD v2:
16-16244598-G-A
gnomAD v3:
16-16150741-G-A
gnomAD v4:
16-16150741-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150741G>A , CM000678.2:g.16150741G>A | GRCh38 |
| NC_000016.9:g.16244598G>A , CM000678.1:g.16244598G>A | GRCh37 |
| NC_000016.8:g.16152099G>A | NCBI36 |
| NG_007558.2:g.77731C>T | |
| NG_007558.3:g.77877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*412C>T | ENSP00000483331.2:n.*412C>T | |
| ENST00000205557.12:c.4240C>T MANE Select | ENSP00000205557.7:p.Arg1414Cys | |
| ENST00000640696.1:c.1054C>T | ENSP00000492197.1:p.Arg352Cys | |
| ENST00000205557.11:c.4240C>T | ENSP00000205557.7:p.Arg1414Cys | |
| ENST00000456970.6:c.3865C>T | ENSP00000405002.2:n.3865C>T | |
| ENST00000576204.5:n.1103C>T | ||
| ENST00000622290.4:c.*1449C>T | ENSP00000483331.1:n.*1449C>T | |
| NM_001171.5:c.4240C>T | NP_001162.4:p.Arg1414Cys | |
| XM_011522479.1:c.4207C>T | XP_011520781.1:p.Arg1403Cys | |
| XM_011522480.1:c.3898C>T | XP_011520782.1:p.Arg1300Cys | |
| XM_011522481.1:c.3898C>T | XP_011520783.1:p.Arg1300Cys | |
| XR_933134.1:n.538+6451G>A | ||
| NM_001351800.1:c.3898C>T | NP_001338729.1:p.Arg1300Cys | |
| NR_147784.1:n.3902C>T | ||
| XM_011522479.2:c.4207C>T | XP_011520781.1:p.Arg1403Cys | |
| XM_011522481.3:c.3898C>T | XP_011520783.1:p.Arg1300Cys | |
| XM_017023212.1:c.4072C>T | XP_016878701.1:p.Arg1358Cys | |
| XM_024450261.1:c.4276C>T | XP_024306029.1:p.Arg1426Cys | |
| NM_001171.6:c.4240C>T MANE Select | NP_001162.5:p.Arg1414Cys |