Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196820520G>A , CM000665.2:g.196820520G>A | GRCh38 |
| NC_000003.11:g.196547391G>A , CM000665.1:g.196547391G>A | GRCh37 |
| NC_000003.10:g.198031788G>A | NCBI36 |
| NG_009227.1:g.85664G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002577.4:c.1303G>A MANE Select | NP_002568.2:p.Glu435Lys |
| ENST00000327134.7:c.1303G>A MANE Select | ENSP00000314067.3:p.Glu435Lys |
| ENST00000426668.1:c.531G>A | |
| XM_011512870.1:c.1303G>A | XP_011511172.1:p.Glu435Lys |
| XM_011512870.2:c.1303G>A | XP_011511172.1:p.Glu435Lys |
| XM_017006501.1:c.1303G>A | XP_016861990.1:p.Glu435Lys |