Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12786229G= , CM000686.2:g.12786229G= | GRCh38 |
| NC_000024.9:g.14898163G= , CM000686.1:g.14898163G= | GRCh37 |
| NC_000024.8:g.13407557G= | NCBI36 |
| NG_008311.1:g.90004G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.3178G= | ENSP00000498372.1:p.Ala1060= | |
| ENST00000338981.7:c.3178G= MANE Select | ENSP00000342812.3:p.Ala1060= | |
| ENST00000426564.6:n.3190G= | ||
| NM_004654.3:c.3178G= | NP_004645.2:p.Ala1060= | |
| XM_011531469.1:c.3178G= | XP_011529771.1:p.Ala1060= | |
| XM_011531470.1:c.2944G= | XP_011529772.1:p.Ala982= | |
| XM_017030078.2:c.3193G= | XP_016885567.1:p.Ala1065= | |
| NM_004654.4:c.3178G= MANE Select | NP_004645.2:p.Ala1060= |