Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12857624C= , CM000686.2:g.12857624C= | GRCh38 |
| NC_000024.9:g.14969549C= , CM000686.1:g.14969549C= | GRCh37 |
| NC_000024.8:g.13478943C= | NCBI36 |
| NG_008311.1:g.161390C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.7493C= | ENSP00000498372.1:p.Pro2498= | |
| ENST00000338981.7:c.7493C= MANE Select | ENSP00000342812.3:p.Pro2498= | |
| ENST00000426564.6:n.7520C= | ||
| ENST00000453031.1:c.538C= | ||
| ENST00000471409.1:n.812C= | ||
| NM_004654.3:c.7493C= | NP_004645.2:p.Pro2498= | |
| XM_011531469.1:c.7493C= | XP_011529771.1:p.Pro2498= | |
| XM_011531470.1:c.7259C= | XP_011529772.1:p.Pro2420= | |
| XM_017030078.2:c.7508C= | XP_016885567.1:p.Pro2503= | |
| NM_004654.4:c.7493C= MANE Select | NP_004645.2:p.Pro2498= |