Linked Data
ClinVar Variation Id:
285386
dbSNP Id:
rs115352681
gnomAD v2:
1-197390140-C-A
gnomAD v4:
1-197421010-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421010C>A , CM000663.2:g.197421010C>A | GRCh38 |
| NC_000001.10:g.197390140C>A , CM000663.1:g.197390140C>A | GRCh37 |
| NC_000001.9:g.195656763C>A | NCBI36 |
| NG_008483.1:g.157733C>A | |
| NG_008483.2:g.224549C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1182C>A MANE Select | ENSP00000356370.3:p.Cys394Ter | |
| ENST00000638467.1:c.1182C>A | ENSP00000491102.1:p.Cys394Ter | |
| ENST00000681519.1:c.63C>A | ENSP00000505267.1:p.Cys21Ter | |
| ENST00000367397.1:c.-676C>A | ENSP00000356367.1:n.-676C>A | |
| ENST00000367399.6:c.846C>A | ENSP00000356369.2:p.Cys282Ter | |
| ENST00000367400.7:c.1182C>A | ENSP00000356370.3:p.Cys394Ter | |
| ENST00000476483.1:n.142C>A | ||
| ENST00000484075.5:c.1182C>A | ENSP00000433932.1:p.Cys394Ter | |
| ENST00000535699.5:c.975C>A | ENSP00000438786.1:p.Cys325Ter | |
| ENST00000538660.5:c.1182C>A | ENSP00000438091.1:p.Cys394Ter | |
| NM_001193640.1:c.846C>A | NP_001180569.1:p.Cys282Ter | |
| NM_001257965.1:c.975C>A | NP_001244894.1:p.Cys325Ter | |
| NM_001257966.1:c.1182C>A | NP_001244895.1:p.Cys394Ter | |
| NM_201253.2:c.1182C>A | NP_957705.1:p.Cys394Ter | |
| NR_047563.1:n.1391C>A | ||
| NR_047564.1:n.1391C>A | ||
| XM_011509365.1:c.1182C>A | XP_011507667.1:p.Cys394Ter | |
| XM_011509366.1:c.1182C>A | XP_011507668.1:p.Cys394Ter | |
| XM_011509367.1:c.1182C>A | XP_011507669.1:p.Cys394Ter | |
| XM_011509368.1:c.600C>A | XP_011507670.1:p.Cys200Ter | |
| XM_011509369.1:c.-376C>A | XP_011507671.1:n.-376C>A | |
| XM_011509365.2:c.1182C>A | XP_011507667.1:p.Cys394Ter | |
| XM_011509369.2:c.-376C>A | XP_011507671.1:n.-376C>A | |
| XM_017000851.1:c.339C>A | XP_016856340.1:p.Cys113Ter | |
| XM_017000852.1:c.1182C>A | XP_016856341.1:p.Cys394Ter | |
| NM_201253.3:c.1182C>A MANE Select | NP_957705.1:p.Cys394Ter | |
| NM_001193640.2:c.846C>A | NP_001180569.1:p.Cys282Ter | |
| NM_001257965.2:c.975C>A | NP_001244894.1:p.Cys325Ter | |
| NR_047563.2:n.1343C>A | ||
| NR_047564.2:n.1343C>A | ||
| NM_001257966.2:c.1182C>A | NP_001244895.1:p.Cys394Ter |