Linked Data
ClinVar Variation Id:
960956
ClinVar RCV Id:
RCV001234574
dbSNP Id:
rs782512273
ExAC:
X:49074434 G / T
gnomAD v2:
X-49074434-G-T
gnomAD v3:
X-49217975-G-T
gnomAD v4:
X-49217975-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49217975G>T , CM000685.2:g.49217975G>T | GRCh38 |
| NC_000023.10:g.49074434G>T , CM000685.1:g.49074434G>T | GRCh37 |
| NC_000023.9:g.48961378G>T | NCBI36 |
| NG_009095.2:g.20392C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.2959C>A MANE Select | ENSP00000321618.6:p.Arg987= | |
| ENST00000323022.9:c.2959C>A | ENSP00000321618.5:p.Arg987= | |
| ENST00000376251.5:c.2797C>A | ENSP00000365427.1:p.Arg933= | |
| ENST00000376265.2:c.2992C>A | ENSP00000365441.2:p.Arg998= | |
| NM_001256789.2:c.2959C>A | NP_001243718.1:p.Arg987= | |
| NM_001256790.2:c.2797C>A | NP_001243719.1:p.Arg933= | |
| NM_005183.3:c.2992C>A | NP_005174.2:p.Arg998= | |
| XM_011543983.1:c.2797C>A | XP_011542285.1:p.Arg933= | |
| XM_011543983.2:c.2797C>A | XP_011542285.1:p.Arg933= | |
| XM_017029836.1:c.226C>A | XP_016885325.1:p.Arg76= | |
| NM_001256789.3:c.2959C>A MANE Select | NP_001243718.1:p.Arg987= | |
| NM_001256790.3:c.2797C>A | NP_001243719.1:p.Arg933= | |
| NM_005183.4:c.2992C>A | NP_005174.2:p.Arg998= |