Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4860264G>C , CM000666.2:g.4860264G>C | GRCh38 |
| NC_000004.11:g.4861991G>C , CM000666.1:g.4861991G>C | GRCh37 |
| NC_000004.10:g.4912892G>C | NCBI36 |
| NG_008121.1:g.5600G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002448.3:c.365G>C MANE Select | NP_002439.2:p.Gly122Ala |
| ENST00000382723.5:c.365G>C MANE Select | ENSP00000372170.4:p.Gly122Ala |
| ENST00000382723.4:c.365G>C | ENSP00000372170.4:p.Gly122Ala |