Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48859097T= , CM000665.2:g.48859097T= | GRCh38 |
| NC_000003.11:g.48896530T= , CM000665.1:g.48896530T= | GRCh37 |
| NC_000003.10:g.48871534T= | NCBI36 |
| NG_008171.1:g.44800A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319017.5:c.713A= MANE Select | ENSP00000326305.4:p.Gln238= | |
| ENST00000319017.4:c.713A= | ENSP00000326305.4:p.Gln238= | |
| ENST00000430379.5:c.494A= | ENSP00000388986.1:p.Gln165= | |
| ENST00000440964.1:c.*543A= | ENSP00000388563.1:n.*543A= | |
| NM_000387.5:c.713A= | NP_000378.1:p.Gln238= | |
| XM_006713327.1:c.536-1325A= | XP_006713390.1:n.536-1325A= | |
| NM_000387.6:c.713A= MANE Select | NP_000378.1:p.Gln238= |