Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445745A>G , CM000663.2:g.15445745A>G | GRCh38 |
| NC_000001.10:g.15772240A>G , CM000663.1:g.15772240A>G | GRCh37 |
| NC_000001.9:g.15644827A>G | NCBI36 |
| NG_009253.1:g.12303A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.788A>G MANE Select | NP_009203.2:p.Asn263Ser |
| ENST00000375949.5:c.788A>G MANE Select | ENSP00000365116.4:p.Asn263Ser |
| NM_007272.2:c.788A>G | NP_009203.2:p.Asn263Ser |
| ENST00000375943.6:c.*242A>G | ENSP00000365110.2:n.*242A>G |
| ENST00000375949.4:c.788A>G | ENSP00000365116.4:p.Asn263Ser |
| ENST00000483406.1:n.552A>G | |
| XM_011540550.1:c.642A>G | XP_011538852.1:p.Gln214= |