Linked Data
ClinVar Variation Id:
1631957
ClinVar RCV Id:
RCV002128200
dbSNP Id:
rs1279461531
gnomAD v2:
X-19373562-T-C
gnomAD v3:
X-19355444-T-C
gnomAD v4:
X-19355444-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19355444T>C , CM000685.2:g.19355444T>C | GRCh38 |
| NC_000023.10:g.19373562T>C , CM000685.1:g.19373562T>C | GRCh37 |
| NC_000023.9:g.19283483T>C | NCBI36 |
| NG_016781.1:g.16552T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.720T>C | ENSP00000348062.6:p.Val240= | |
| ENST00000379805.4:c.*391T>C | ENSP00000369133.3:n.*391T>C | |
| ENST00000417819.6:c.783T>C | ENSP00000404616.2:p.Val261= | |
| ENST00000423505.6:c.813T>C | ENSP00000406473.2:p.Val271= | |
| ENST00000481733.2:n.494T>C | ||
| ENST00000696704.1:c.*31T>C | ENSP00000512823.1:n.*31T>C | |
| ENST00000696705.1:c.*154T>C | ENSP00000512824.1:n.*154T>C | |
| ENST00000422285.7:c.699T>C MANE Select | ENSP00000394382.2:p.Val233= | |
| ENST00000379806.9:c.813T>C | ENSP00000369134.5:p.Val271= | |
| ENST00000422285.6:c.699T>C | ENSP00000394382.2:p.Val233= | |
| ENST00000479146.1:n.534T>C | ||
| ENST00000481733.1:n.127T>C | ||
| ENST00000540249.5:c.606T>C | ENSP00000440761.1:p.Val202= | |
| ENST00000545074.5:c.720T>C | ENSP00000438550.1:p.Val240= | |
| NM_000284.3:c.699T>C | NP_000275.1:p.Val233= | |
| NM_001173454.1:c.813T>C | NP_001166925.1:p.Val271= | |
| NM_001173455.1:c.720T>C | NP_001166926.1:p.Val240= | |
| NM_001173456.1:c.606T>C | NP_001166927.1:p.Val202= | |
| XM_011545531.1:c.834T>C | XP_011543833.1:p.Val278= | |
| XM_011545532.1:c.741T>C | XP_011543834.1:p.Val247= | |
| XM_017029574.2:c.720T>C | XP_016885063.1:p.Val240= | |
| NM_000284.4:c.699T>C MANE Select | NP_000275.1:p.Val233= | |
| NM_001173454.2:c.813T>C | NP_001166925.1:p.Val271= | |
| NM_001173455.2:c.720T>C | NP_001166926.1:p.Val240= | |
| NM_001173456.2:c.606T>C | NP_001166927.1:p.Val202= |