Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8941640G>A , CM000665.2:g.8941640G>A | GRCh38 |
| NC_000003.11:g.8983324G>A , CM000665.1:g.8983324G>A | GRCh37 |
| NC_000003.10:g.8958324G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020165.4:c.431C>T MANE Select | NP_064550.3:p.Ser144Phe |
| ENST00000264926.7:c.431C>T MANE Select | ENSP00000264926.2:p.Ser144Phe |
| NM_020165.3:c.431C>T | NP_064550.3:p.Ser144Phe |
| ENST00000264926.6:c.431C>T | ENSP00000264926.2:p.Ser144Phe |
| ENST00000415439.5:c.431C>T | ENSP00000402049.1:p.Ser144Phe |
| ENST00000418463.5:c.*207C>T | ENSP00000397852.1:n.*207C>T |
| ENST00000421052.5:c.*27C>T | ENSP00000399620.1:n.*27C>T |
| ENST00000495087.5:n.466C>T | |
| XM_017006873.1:c.173C>T | XP_016862362.1:p.Ser58Phe |