Linked Data
ClinVar Variation Id:
722764
ClinVar RCV Id:
RCV000896447
dbSNP Id:
rs782654962
ExAC:
X:49074469 G / A
gnomAD v3:
X-49218010-G-A
gnomAD v4:
X-49218010-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49218010G>A , CM000685.2:g.49218010G>A | GRCh38 |
| NC_000023.10:g.49074469G>A , CM000685.1:g.49074469G>A | GRCh37 |
| NC_000023.9:g.48961413G>A | NCBI36 |
| NG_009095.2:g.20357C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.2929-5C>T MANE Select | ENSP00000321618.6:n.2929-5C>T | |
| ENST00000323022.9:c.2929-5C>T | ENSP00000321618.5:n.2929-5C>T | |
| ENST00000376251.5:c.2767-5C>T | ENSP00000365427.1:n.2767-5C>T | |
| ENST00000376265.2:c.2962-5C>T | ENSP00000365441.2:n.2962-5C>T | |
| NM_001256789.2:c.2929-5C>T | NP_001243718.1:n.2929-5C>T | |
| NM_001256790.2:c.2767-5C>T | NP_001243719.1:n.2767-5C>T | |
| NM_005183.3:c.2962-5C>T | NP_005174.2:n.2962-5C>T | |
| XM_011543983.1:c.2767-5C>T | XP_011542285.1:n.2767-5C>T | |
| XM_011543983.2:c.2767-5C>T | XP_011542285.1:n.2767-5C>T | |
| XM_017029836.1:c.196-5C>T | XP_016885325.1:n.196-5C>T | |
| NM_001256789.3:c.2929-5C>T MANE Select | NP_001243718.1:n.2929-5C>T | |
| NM_001256790.3:c.2767-5C>T | NP_001243719.1:n.2767-5C>T | |
| NM_005183.4:c.2962-5C>T | NP_005174.2:n.2962-5C>T |