Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8189756C>T , CM000679.2:g.8189756C>T | GRCh38 |
| NC_000017.10:g.8093074C>T , CM000679.1:g.8093074C>T | GRCh37 |
| NC_000017.9:g.8033799C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389017.6:c.385G>A MANE Select | ENSP00000373669.4:p.Gly129Arg | |
| ENST00000389017.5:c.385G>A | ENSP00000373669.4:p.Gly129Arg | |
| NM_017622.2:c.385G>A | NP_060092.2:p.Gly129Arg | |
| NM_017622.3:c.385G>A MANE Select | NP_060092.2:p.Gly129Arg |