Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21009304G= , CM000664.2:g.21009304G= | GRCh38 |
| NC_000002.11:g.21232176G= , CM000664.1:g.21232176G= | GRCh37 |
| NC_000002.10:g.21085681G= | NCBI36 |
| NG_011793.1:g.39770C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000384.3:c.7564C= MANE Select | NP_000375.3:p.Arg2522= |
| ENST00000233242.5:c.7564C= MANE Select | ENSP00000233242.1:p.Arg2522= |
| NM_000384.2:c.7564C= | NP_000375.2:p.Arg2522= |
| ENST00000616098.4:c.7564C= | ENSP00000477990.1:p.Arg2522= |
| XM_011532809.1:c.5869+1429C= | XP_011531111.1:n.5869+1429C= |