Linked Data
dbSNP Id:
rs755284765
ExAC:
X:22196409 A / G
gnomAD v2:
X-22196409-A-G
gnomAD v4:
X-22178292-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22178292A>G , CM000685.2:g.22178292A>G | GRCh38 |
| NC_000023.10:g.22196409A>G , CM000685.1:g.22196409A>G | GRCh37 |
| NC_000023.9:g.22106330A>G | NCBI36 |
| NG_007563.2:g.150489A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682888.1:c.56A>G | ENSP00000508003.1:p.Asp19Gly | |
| ENST00000683162.1:c.56A>G | ENSP00000508059.1:p.Asp19Gly | |
| ENST00000683289.1:c.56A>G | ENSP00000508195.1:p.Asp19Gly | |
| ENST00000683917.1:n.286A>G | ||
| ENST00000684356.1:c.56A>G | ENSP00000507619.1:p.Asp19Gly | |
| ENST00000684745.1:n.1176A>G | ||
| ENST00000379374.5:c.1502A>G MANE Select | ENSP00000368682.4:p.Asp501Gly | |
| ENST00000379374.4:c.1502A>G | ENSP00000368682.4:p.Asp501Gly | |
| NM_000444.5:c.1502A>G | NP_000435.3:p.Asp501Gly | |
| NM_001282754.1:c.1502A>G | NP_001269683.1:p.Asp501Gly | |
| XM_011545533.1:c.746A>G | XP_011543835.1:p.Asp249Gly | |
| XM_011545534.1:c.746A>G | XP_011543836.1:p.Asp249Gly | |
| XM_011545536.1:c.395A>G | XP_011543838.1:p.Asp132Gly | |
| XM_011545536.2:c.395A>G | XP_011543838.1:p.Asp132Gly | |
| XM_017029579.1:c.746A>G | XP_016885068.1:p.Asp249Gly | |
| XM_024452390.1:c.1211A>G | XP_024308158.1:p.Asp404Gly | |
| XR_001755695.1:n.2342A>G | ||
| NM_000444.6:c.1502A>G MANE Select | NP_000435.3:p.Asp501Gly | |
| NM_001282754.2:c.1502A>G | NP_001269683.1:p.Asp501Gly |