Linked Data
dbSNP Id:
rs749571801
ExAC:
X:66937329 A / G
gnomAD v2:
X-66937329-A-G
gnomAD v3:
X-67717487-A-G
gnomAD v4:
X-67717487-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67717487A>G , CM000685.2:g.67717487A>G | GRCh38 |
| NC_000023.10:g.66937329A>G , CM000685.1:g.66937329A>G | GRCh37 |
| NC_000023.9:g.66854054A>G | NCBI36 |
| NG_009014.2:g.178456A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*531A>G | ENSP00000379358.4:n.*531A>G | |
| ENST00000374690.9:c.2183A>G MANE Select | ENSP00000363822.3:p.Asn728Ser | |
| ENST00000396043.3:c.810A>G | ENSP00000379358.3:n.810A>G | |
| ENST00000396044.8:c.2173+5798A>G | ENSP00000379359.3:n.2173+5798A>G | |
| ENST00000612452.5:c.2183A>G | ENSP00000484033.2:p.Asn728Ser | |
| ENST00000374690.7:c.2183A>G | ENSP00000363822.3:p.Asn728Ser | |
| ENST00000396043.2:c.587A>G | ENSP00000379358.2:p.Asn196Ser | |
| ENST00000396044.7:c.2173+5798A>G | ENSP00000379359.3:n.2173+5798A>G | |
| ENST00000612452.4:c.1613A>G | ENSP00000484033.1:p.Asn538Ser | |
| NM_000044.3:c.2183A>G | NP_000035.2:p.Asn728Ser | |
| NM_001011645.2:c.587A>G | NP_001011645.1:p.Asn196Ser | |
| NM_000044.4:c.2183A>G | NP_000035.2:p.Asn728Ser | |
| NM_001011645.3:c.587A>G | NP_001011645.1:p.Asn196Ser | |
| NM_000044.6:c.2183A>G MANE Select | NP_000035.2:p.Asn728Ser |