Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.111247922G>C , CM000685.2:g.111247922G>C | GRCh38 |
| NC_000023.10:g.110491150G>C , CM000685.1:g.110491150G>C | GRCh37 |
| NC_000023.9:g.110377806G>C | NCBI36 |
| NG_015962.1:g.27625C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014289.4:c.1555C>G MANE Select | NP_055104.2:p.Gln519Glu |
| ENST00000324068.2:c.1555C>G MANE Select | ENSP00000317214.1:p.Gln519Glu |
| NM_014289.3:c.1555C>G | NP_055104.2:p.Gln519Glu |
| ENST00000324068.1:c.1555C>G | ENSP00000317214.1:p.Gln519Glu |