Linked Data
dbSNP Id:
rs1399735836
gnomAD v2:
X-38535069-G-A
gnomAD v3:
X-38675815-G-A
gnomAD v4:
X-38675815-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675815G>A , CM000685.2:g.38675815G>A | GRCh38 |
| NC_000023.10:g.38535069G>A , CM000685.1:g.38535069G>A | GRCh37 |
| NC_000023.9:g.38420013G>A | NCBI36 |
| NG_009160.1:g.119339G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.552G>A MANE Select | ENSP00000367743.2:p.Gln184= | |
| ENST00000286824.6:c.603G>A | ENSP00000286824.6:p.Gln201= | |
| ENST00000378482.6:c.552G>A | ENSP00000367743.2:p.Gln184= | |
| ENST00000419600.3:n.496G>A | ||
| ENST00000465127.1:c.642G>A | ENSP00000417050.1:p.Gln214= | |
| ENST00000471410.5:c.*578G>A | ENSP00000419290.1:n.*578G>A | |
| ENST00000475216.5:c.*545G>A | ENSP00000418586.1:n.*545G>A | |
| ENST00000488893.5:n.735G>A | ||
| NM_004615.3:c.552G>A | NP_004606.2:p.Gln184= | |
| NM_004615.4:c.552G>A MANE Select | NP_004606.2:p.Gln184= |