Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12857620G>C , CM000686.2:g.12857620G>C | GRCh38 |
| NC_000024.9:g.14969545G>C , CM000686.1:g.14969545G>C | GRCh37 |
| NC_000024.8:g.13478939G>C | NCBI36 |
| NG_008311.1:g.161386G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.7489G>C | ENSP00000498372.1:p.Ala2497Pro | |
| ENST00000338981.7:c.7489G>C MANE Select | ENSP00000342812.3:p.Ala2497Pro | |
| ENST00000426564.6:n.7516G>C | ||
| ENST00000453031.1:c.534G>C | ||
| ENST00000471409.1:n.808G>C | ||
| NM_004654.3:c.7489G>C | NP_004645.2:p.Ala2497Pro | |
| XM_011531469.1:c.7489G>C | XP_011529771.1:p.Ala2497Pro | |
| XM_011531470.1:c.7255G>C | XP_011529772.1:p.Ala2419Pro | |
| XM_017030078.2:c.7504G>C | XP_016885567.1:p.Ala2502Pro | |
| NM_004654.4:c.7489G>C MANE Select | NP_004645.2:p.Ala2497Pro |