Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12846293T>C , CM000686.2:g.12846293T>C | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.6569-40T>C MANE Select | NP_004645.2:n.6569-40T>C |
| ENST00000338981.7:c.6569-40T>C MANE Select | ENSP00000342812.3:n.6569-40T>C |
| NM_004654.3:c.6569-40T>C | NP_004645.2:n.6569-40T>C |
| ENST00000426564.6:n.6596-40T>C | |
| ENST00000651177.1:c.6569-40T>C | ENSP00000498372.1:n.6569-40T>C |
| XM_011531469.1:c.6569-40T>C | XP_011529771.1:n.6569-40T>C |
| XM_011531470.1:c.6335-40T>C | XP_011529772.1:n.6335-40T>C |
| XM_017030078.2:c.6584-40T>C | XP_016885567.1:n.6584-40T>C |