Linked Data
dbSNP Id:
rs752666035
ExAC:
X:43591131 A / G
gnomAD v2:
X-43591131-A-G
gnomAD v4:
X-43731884-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43731884A>G , CM000685.2:g.43731884A>G | GRCh38 |
| NC_000023.10:g.43591131A>G , CM000685.1:g.43591131A>G | GRCh37 |
| NC_000023.9:g.43476075A>G | NCBI36 |
| NG_008957.2:g.80724A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542639.6:c.556+31A>G | ENSP00000440846.1:n.556+31A>G | |
| ENST00000686683.1:c.265+31A>G | ENSP00000509063.1:n.265+31A>G | |
| ENST00000686980.1:n.1087+31A>G | ||
| ENST00000688006.1:c.556+31A>G | ENSP00000510311.1:n.556+31A>G | |
| ENST00000688859.1:n.511+31A>G | ||
| ENST00000689087.1:c.556+31A>G | ENSP00000508997.1:n.556+31A>G | |
| ENST00000693128.1:c.850+31A>G | ENSP00000508493.1:n.850+31A>G | |
| ENST00000338702.4:c.955+31A>G MANE Select | ENSP00000340684.3:n.955+31A>G | |
| ENST00000338702.3:c.955+31A>G | ENSP00000340684.3:n.955+31A>G | |
| ENST00000542639.5:c.556+31A>G | ENSP00000440846.1:n.556+31A>G | |
| NM_000240.3:c.955+31A>G | NP_000231.1:n.955+31A>G | |
| NM_001270458.1:c.556+31A>G | NP_001257387.1:n.556+31A>G | |
| NM_000240.4:c.955+31A>G MANE Select | NP_000231.1:n.955+31A>G | |
| NM_001270458.2:c.556+31A>G | NP_001257387.1:n.556+31A>G |