Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12857611T>C , CM000686.2:g.12857611T>C | GRCh38 |
| NC_000024.9:g.14969536T>C , CM000686.1:g.14969536T>C | GRCh37 |
| NC_000024.8:g.13478930T>C | NCBI36 |
| NG_008311.1:g.161377T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.7480T>C | ENSP00000498372.1:p.Ser2494Pro | |
| ENST00000338981.7:c.7480T>C MANE Select | ENSP00000342812.3:p.Ser2494Pro | |
| ENST00000426564.6:n.7507T>C | ||
| ENST00000453031.1:c.525T>C | ||
| ENST00000471409.1:n.799T>C | ||
| NM_004654.3:c.7480T>C | NP_004645.2:p.Ser2494Pro | |
| XM_011531469.1:c.7480T>C | XP_011529771.1:p.Ser2494Pro | |
| XM_011531470.1:c.7246T>C | XP_011529772.1:p.Ser2416Pro | |
| XM_017030078.2:c.7495T>C | XP_016885567.1:p.Ser2499Pro | |
| NM_004654.4:c.7480T>C MANE Select | NP_004645.2:p.Ser2494Pro |