Linked Data
ClinVar Variation Id:
11617
dbSNP Id:
rs122456135
gnomAD v4:
X-49219344-G-A
COSMIC:
COSM1122452
PubMed:
PMID:9662400
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49219344G>A , CM000685.2:g.49219344G>A | GRCh38 |
| NC_000023.10:g.49075803G>A , CM000685.1:g.49075803G>A | GRCh37 |
| NC_000023.9:g.48962747G>A | NCBI36 |
| NG_009095.2:g.19023C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323022.10:c.2650C>T MANE Select | ENSP00000321618.6:p.Arg884Ter | |
| ENST00000323022.9:c.2650C>T | ENSP00000321618.5:p.Arg884Ter | |
| ENST00000376251.5:c.2488C>T | ENSP00000365427.1:p.Arg830Ter | |
| ENST00000376265.2:c.2683C>T | ENSP00000365441.2:p.Arg895Ter | |
| NM_001256789.2:c.2650C>T | NP_001243718.1:p.Arg884Ter | |
| NM_001256790.2:c.2488C>T | NP_001243719.1:p.Arg830Ter | |
| NM_005183.3:c.2683C>T | NP_005174.2:p.Arg895Ter | |
| XM_011543983.1:c.2488C>T | XP_011542285.1:p.Arg830Ter | |
| XM_011543983.2:c.2488C>T | XP_011542285.1:p.Arg830Ter | |
| XM_017029836.1:c.-84C>T | XP_016885325.1:n.-84C>T | |
| NM_001256789.3:c.2650C>T MANE Select | NP_001243718.1:p.Arg884Ter | |
| NM_001256790.3:c.2488C>T | NP_001243719.1:p.Arg830Ter | |
| NM_005183.4:c.2683C>T | NP_005174.2:p.Arg895Ter |