Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12726069A>G , CM000686.2:g.12726069A>G | GRCh38 |
| NC_000024.9:g.14838002A>G , CM000686.1:g.14838002A>G | GRCh37 |
| NC_000024.8:g.13347396A>G | NCBI36 |
| NG_008311.1:g.29843A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.439-506A>G MANE Select | NP_004645.2:n.439-506A>G |
| ENST00000338981.7:c.439-506A>G MANE Select | ENSP00000342812.3:n.439-506A>G |
| NM_004654.3:c.439-506A>G | NP_004645.2:n.439-506A>G |
| ENST00000426564.6:n.451-506A>G | |
| ENST00000651177.1:c.439-506A>G | ENSP00000498372.1:n.439-506A>G |
| XM_011531469.1:c.439-506A>G | XP_011529771.1:n.439-506A>G |
| XM_011531470.1:c.205-506A>G | XP_011529772.1:n.205-506A>G |
| XM_017030078.2:c.439-506A>G | XP_016885567.1:n.439-506A>G |