Linked Data
dbSNP Id:
rs1016130945
gnomAD v2:
X-38535068-A-G
gnomAD v3:
X-38675814-A-G
gnomAD v4:
X-38675814-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675814A>G , CM000685.2:g.38675814A>G | GRCh38 |
| NC_000023.10:g.38535068A>G , CM000685.1:g.38535068A>G | GRCh37 |
| NC_000023.9:g.38420012A>G | NCBI36 |
| NG_009160.1:g.119338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.551A>G MANE Select | ENSP00000367743.2:p.Gln184Arg | |
| ENST00000286824.6:c.602A>G | ENSP00000286824.6:p.Gln201Arg | |
| ENST00000378482.6:c.551A>G | ENSP00000367743.2:p.Gln184Arg | |
| ENST00000419600.3:n.495A>G | ||
| ENST00000465127.1:c.641A>G | ENSP00000417050.1:p.Gln214Arg | |
| ENST00000471410.5:c.*577A>G | ENSP00000419290.1:n.*577A>G | |
| ENST00000475216.5:c.*544A>G | ENSP00000418586.1:n.*544A>G | |
| ENST00000488893.5:n.734A>G | ||
| NM_004615.3:c.551A>G | NP_004606.2:p.Gln184Arg | |
| NM_004615.4:c.551A>G MANE Select | NP_004606.2:p.Gln184Arg |