Linked Data
ClinVar Variation Id:
6576
dbSNP Id:
rs28939702
ExAC:
16:16248756 G / A
gnomAD v2:
16-16248756-G-A
gnomAD v3:
16-16154899-G-A
gnomAD v4:
16-16154899-G-A
PubMed:
PMID:12384774
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154899G>A , CM000678.2:g.16154899G>A | GRCh38 |
| NC_000016.9:g.16248756G>A , CM000678.1:g.16248756G>A | GRCh37 |
| NC_000016.8:g.16156257G>A | NCBI36 |
| NG_007558.2:g.73573C>T | |
| NG_007558.3:g.73719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.878C>T | ||
| ENST00000622290.5:c.*187C>T | ENSP00000483331.2:n.*187C>T | |
| ENST00000205557.12:c.4015C>T MANE Select | ENSP00000205557.7:p.Arg1339Cys | |
| ENST00000640696.1:c.829C>T | ENSP00000492197.1:p.Arg277Cys | |
| ENST00000205557.11:c.4015C>T | ENSP00000205557.7:p.Arg1339Cys | |
| ENST00000456970.6:c.3640C>T | ENSP00000405002.2:n.3640C>T | |
| ENST00000576204.5:n.878C>T | ||
| ENST00000622290.4:c.*1224C>T | ENSP00000483331.1:n.*1224C>T | |
| NM_001171.5:c.4015C>T | NP_001162.4:p.Arg1339Cys | |
| XM_011522479.1:c.3982C>T | XP_011520781.1:p.Arg1328Cys | |
| XM_011522480.1:c.3673C>T | XP_011520782.1:p.Arg1225Cys | |
| XM_011522481.1:c.3673C>T | XP_011520783.1:p.Arg1225Cys | |
| XR_933134.1:n.539-4882G>A | ||
| NM_001351800.1:c.3673C>T | NP_001338729.1:p.Arg1225Cys | |
| NR_147784.1:n.3677C>T | ||
| XM_011522479.2:c.3982C>T | XP_011520781.1:p.Arg1328Cys | |
| XM_011522481.3:c.3673C>T | XP_011520783.1:p.Arg1225Cys | |
| XM_017023212.1:c.3847C>T | XP_016878701.1:p.Arg1283Cys | |
| XM_024450261.1:c.4051C>T | XP_024306029.1:p.Arg1351Cys | |
| NM_001171.6:c.4015C>T MANE Select | NP_001162.5:p.Arg1339Cys |