Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339634G>A , CM000669.2:g.17339634G>A | GRCh38 |
| NC_000007.13:g.17379258G>A , CM000669.1:g.17379258G>A | GRCh37 |
| NC_000007.12:g.17345783G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1809G>A MANE Select | ENSP00000242057.4:p.Gln603= | |
| ENST00000637807.1:c.1779G>A | ENSP00000490530.1:p.Gln593= | |
| ENST00000642825.1:c.1764G>A | ENSP00000495987.1:p.Gln588= | |
| ENST00000242057.8:c.1809G>A | ENSP00000242057.4:p.Gln603= | |
| ENST00000463496.1:c.1809G>A | ENSP00000436466.1:p.Gln603= | |
| NM_001621.4:c.1809G>A | NP_001612.1:p.Gln603= | |
| NM_001621.5:c.1809G>A MANE Select | NP_001612.1:p.Gln603= |