Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61048535T>A , CM000664.2:g.61048535T>A | GRCh38 |
| NC_000002.11:g.61275670T>A , CM000664.1:g.61275670T>A | GRCh37 |
| NC_000002.10:g.61129174T>A | NCBI36 |
| NG_008665.1:g.35859T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.977T>A MANE Select | ENSP00000295030.4:p.Ile326Lys | |
| ENST00000295030.5:c.977T>A | ENSP00000295030.4:p.Ile326Lys | |
| NM_002618.3:c.977T>A | NP_002609.1:p.Ile326Lys | |
| XM_011532904.1:c.860T>A | XP_011531206.1:p.Ile287Lys | |
| NM_002618.4:c.977T>A MANE Select | NP_002609.1:p.Ile326Lys |