Linked Data
dbSNP Id:
rs782705686
ExAC:
X:53459248 T / C
gnomAD v2:
X-53459248-T-C
gnomAD v4:
X-53432300-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53432300T>C , CM000685.2:g.53432300T>C | GRCh38 |
| NC_000023.10:g.53459248T>C , CM000685.1:g.53459248T>C | GRCh37 |
| NC_000023.9:g.53475973T>C | NCBI36 |
| NG_008153.1:g.7076A>G , LRG_450:g.7076A>G | |
| NG_033076.2:g.14446T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.448A>G | ||
| ENST00000682365.1:n.1639A>G | ||
| ENST00000684251.1:n.148A>G | ||
| ENST00000684503.1:n.469A>G | ||
| ENST00000684692.1:c.304A>G | ENSP00000506792.1:p.Asn102Asp | |
| ENST00000168216.11:c.304A>G MANE Select | ENSP00000168216.6:p.Asn102Asp | |
| ENST00000168216.10:c.304A>G | ENSP00000168216.6:p.Asn102Asp | |
| ENST00000375298.4:c.304A>G | ENSP00000364447.4:p.Asn102Asp | |
| ENST00000375304.9:c.304A>G | ENSP00000364453.5:p.Asn102Asp | |
| ENST00000477706.1:n.23A>G | ||
| ENST00000495986.1:n.436A>G | ||
| NM_001037811.2:c.304A>G , LRG_450t2:c.304A>G | NP_001032900.1:p.Asn102Asp | |
| NM_004493.2:c.304A>G , LRG_450t1:c.304A>G | NP_004484.1:p.Asn102Asp | |
| NM_004493.3:c.304A>G MANE Select | NP_004484.1:p.Asn102Asp |