Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12844192A>C , CM000686.2:g.12844192A>C | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.6568+999A>C MANE Select | NP_004645.2:n.6568+999A>C |
| ENST00000338981.7:c.6568+999A>C MANE Select | ENSP00000342812.3:n.6568+999A>C |
| NM_004654.3:c.6568+999A>C | NP_004645.2:n.6568+999A>C |
| ENST00000426564.6:n.6595+999A>C | |
| ENST00000651177.1:c.6568+999A>C | ENSP00000498372.1:n.6568+999A>C |
| XM_011531469.1:c.6568+999A>C | XP_011529771.1:n.6568+999A>C |
| XM_011531470.1:c.6334+999A>C | XP_011529772.1:n.6334+999A>C |
| XM_017030078.2:c.6583+999A>C | XP_016885567.1:n.6583+999A>C |