Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48859152C>T , CM000665.2:g.48859152C>T | GRCh38 |
| NC_000003.11:g.48896585C>T , CM000665.1:g.48896585C>T | GRCh37 |
| NC_000003.10:g.48871589C>T | NCBI36 |
| NG_008171.1:g.44745G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000387.6:c.658G>A MANE Select | NP_000378.1:p.Gly220Arg |
| ENST00000319017.5:c.658G>A MANE Select | ENSP00000326305.4:p.Gly220Arg |
| NM_000387.5:c.658G>A | NP_000378.1:p.Gly220Arg |
| ENST00000319017.4:c.658G>A | ENSP00000326305.4:p.Gly220Arg |
| ENST00000430379.5:c.439G>A | ENSP00000388986.1:p.Gly147Arg |
| ENST00000440964.1:c.*488G>A | ENSP00000388563.1:n.*488G>A |
| XM_006713327.1:c.536-1380G>A | XP_006713390.1:n.536-1380G>A |