Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12857709T= , CM000686.2:g.12857709T= | GRCh38 |
| NC_000024.9:g.14969634T= , CM000686.1:g.14969634T= | GRCh37 |
| NC_000024.8:g.13479028T= | NCBI36 |
| NG_008311.1:g.161475T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.7530+48T= MANE Select | NP_004645.2:n.7530+48T= |
| ENST00000338981.7:c.7530+48T= MANE Select | ENSP00000342812.3:n.7530+48T= |
| NM_004654.3:c.7530+48T= | NP_004645.2:n.7530+48T= |
| ENST00000426564.6:n.7557+48T= | |
| ENST00000453031.1:c.575+48T= | |
| ENST00000471409.1:n.849+48T= | |
| ENST00000651177.1:c.7530+48T= | ENSP00000498372.1:n.7530+48T= |
| XM_011531469.1:c.7530+48T= | XP_011529771.1:n.7530+48T= |
| XM_011531470.1:c.7296+48T= | XP_011529772.1:n.7296+48T= |
| XM_017030078.2:c.7545+48T= | XP_016885567.1:n.7545+48T= |