Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12778341G>A , CM000686.2:g.12778341G>A | GRCh38 |
| NC_000024.9:g.14890275G>A , CM000686.1:g.14890275G>A | GRCh37 |
| NC_000024.8:g.13399669G>A | NCBI36 |
| NG_008311.1:g.82116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.2880+82G>A | ENSP00000498372.1:n.2880+82G>A | |
| ENST00000338981.7:c.2880+82G>A MANE Select | ENSP00000342812.3:n.2880+82G>A | |
| ENST00000426564.6:n.2892+82G>A | ||
| NM_004654.3:c.2880+82G>A | NP_004645.2:n.2880+82G>A | |
| XM_011531469.1:c.2880+82G>A | XP_011529771.1:n.2880+82G>A | |
| XM_011531470.1:c.2646+82G>A | XP_011529772.1:n.2646+82G>A | |
| XM_017030078.2:c.2895+82G>A | XP_016885567.1:n.2895+82G>A | |
| NM_004654.4:c.2880+82G>A MANE Select | NP_004645.2:n.2880+82G>A |