Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13854765C= , CM000665.2:g.13854765C= | GRCh38 |
| NC_000003.11:g.13896262C= , CM000665.1:g.13896262C= | GRCh37 |
| NC_000003.10:g.13871263C= | NCBI36 |
| NG_008088.1:g.30357G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285018.5:c.337G= MANE Select | ENSP00000285018.4:p.Ala113= | |
| ENST00000285018.4:c.337G= | ENSP00000285018.4:p.Ala113= | |
| NM_004625.3:c.337G= | NP_004616.2:p.Ala113= | |
| XM_011534090.1:c.136G= | XP_011532392.1:p.Ala46= | |
| XM_011534091.1:c.136G= | XP_011532393.1:p.Ala46= | |
| XM_011534091.2:c.136G= | XP_011532393.1:p.Ala46= | |
| NM_004625.4:c.337G= MANE Select | NP_004616.2:p.Ala113= |