Linked Data
dbSNP Id:
rs752781848
ExAC:
X:22065237 A / G
gnomAD v2:
X-22065237-A-G
gnomAD v4:
X-22047119-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22047119A>G , CM000685.2:g.22047119A>G | GRCh38 |
| NC_000023.10:g.22065237A>G , CM000685.1:g.22065237A>G | GRCh37 |
| NC_000023.9:g.21975158A>G | NCBI36 |
| NG_007563.2:g.19317A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475778.2:n.683A>G | ||
| ENST00000683214.1:n.544+13996A>G | ||
| ENST00000684143.1:c.257A>G | ENSP00000508264.1:p.Asp86Gly | |
| ENST00000379374.5:c.257A>G MANE Select | ENSP00000368682.4:p.Asp86Gly | |
| ENST00000379374.4:c.257A>G | ENSP00000368682.4:p.Asp86Gly | |
| NM_000444.5:c.257A>G | NP_000435.3:p.Asp86Gly | |
| NM_001282754.1:c.257A>G | NP_001269683.1:p.Asp86Gly | |
| XM_011545535.1:c.257A>G | XP_011543837.1:p.Asp86Gly | |
| XM_024452390.1:c.-35A>G | XP_024308158.1:n.-35A>G | |
| XR_001755695.1:n.936A>G | ||
| NM_000444.6:c.257A>G MANE Select | NP_000435.3:p.Asp86Gly | |
| NM_001282754.2:c.257A>G | NP_001269683.1:p.Asp86Gly |