Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96536270G>C , CM000668.2:g.96536270G>C | GRCh38 |
| NC_000006.11:g.96984146G>C , CM000668.1:g.96984146G>C | GRCh37 |
| NC_000006.10:g.97090867G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015323.5:c.682G>C MANE Select | NP_056138.1:p.Gly228Arg |
| ENST00000369278.5:c.682G>C MANE Select | ENSP00000358283.4:p.Gly228Arg |
| NM_015323.4:c.682G>C | NP_056138.1:p.Gly228Arg |
| ENST00000369278.4:c.682G>C | ENSP00000358283.4:p.Gly228Arg |