Linked Data
ClinVar Variation Id:
435868
ClinVar RCV Id:
RCV000501858
dbSNP Id:
rs534271877
ExAC:
X:107160962 G / A
gnomAD v2:
X-107160962-G-A
gnomAD v3:
X-107917732-G-A
gnomAD v4:
X-107917732-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107917732G>A , CM000685.2:g.107917732G>A | GRCh38 |
| NC_000023.10:g.107160962G>A , CM000685.1:g.107160962G>A | GRCh37 |
| NC_000023.9:g.107047618G>A | NCBI36 |
| NG_011907.1:g.96879G>A | |
| NG_011907.2:g.96879G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262843.11:c.1428G>A MANE Select | ENSP00000262843.6:p.Ala476= | |
| ENST00000262843.10:c.1428G>A | ENSP00000262843.6:p.Ala476= | |
| ENST00000443968.2:c.1345+83G>A | ENSP00000413976.2:n.1345+83G>A | |
| ENST00000474517.1:n.148+83G>A | ||
| NM_012216.3:c.1428G>A | NP_036348.2:p.Ala476= | |
| NM_052817.2:c.1345+83G>A | NP_438112.2:n.1345+83G>A | |
| NR_110395.1:n.326+15298C>T | ||
| XM_005262062.3:c.1368G>A | XP_005262119.1:p.Ala456= | |
| XM_005262062.5:c.1368G>A | XP_005262119.1:p.Ala456= | |
| XM_017029239.2:c.1285+83G>A | XP_016884728.1:n.1285+83G>A | |
| NM_012216.4:c.1428G>A MANE Select | NP_036348.2:p.Ala476= | |
| NM_052817.3:c.1345+83G>A | NP_438112.2:n.1345+83G>A | |
| NM_001382751.1:c.1368G>A | NP_001369680.1:p.Ala456= | |
| NM_001382752.1:c.1285+83G>A | NP_001369681.1:n.1285+83G>A |