Linked Data
ClinVar Variation Id:
265464
dbSNP Id:
rs886039559
gnomAD v2:
X-49081260-G-A
gnomAD v4:
X-49224798-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49224798G>A , CM000685.2:g.49224798G>A | GRCh38 |
| NC_000023.10:g.49081260G>A , CM000685.1:g.49081260G>A | GRCh37 |
| NC_000023.9:g.48968204G>A | NCBI36 |
| NG_009095.2:g.13569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.1840C>T MANE Select | ENSP00000321618.6:p.Arg614Ter | |
| ENST00000323022.9:c.1840C>T | ENSP00000321618.5:p.Arg614Ter | |
| ENST00000376251.5:c.1678C>T | ENSP00000365427.1:p.Arg560Ter | |
| ENST00000376265.2:c.1873C>T | ENSP00000365441.2:p.Arg625Ter | |
| NM_001256789.2:c.1840C>T | NP_001243718.1:p.Arg614Ter | |
| NM_001256790.2:c.1678C>T | NP_001243719.1:p.Arg560Ter | |
| NM_005183.3:c.1873C>T | NP_005174.2:p.Arg625Ter | |
| XM_011543983.1:c.1678C>T | XP_011542285.1:p.Arg560Ter | |
| XM_011543983.2:c.1678C>T | XP_011542285.1:p.Arg560Ter | |
| NM_001256789.3:c.1840C>T MANE Select | NP_001243718.1:p.Arg614Ter | |
| NM_001256790.3:c.1678C>T | NP_001243719.1:p.Arg560Ter | |
| NM_005183.4:c.1873C>T | NP_005174.2:p.Arg625Ter |