Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774605G>A , CM000683.2:g.43774605G>A | GRCh38 |
| NC_000021.8:g.45194486G>A , CM000683.1:g.45194486G>A | GRCh37 |
| NC_000021.7:g.44018914G>A | NCBI36 |
| NG_011545.1:g.6774C>T , LRG_485:g.6774C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000100.4:c.168+53C>T MANE Select | NP_000091.1:n.168+53C>T |
| ENST00000291568.7:c.168+53C>T MANE Select | ENSP00000291568.6:n.168+53C>T |
| NM_000100.3:c.168+53C>T , LRG_485t1:c.168+53C>T | NP_000091.1:n.168+53C>T |
| ENST00000291568.5:c.168+53C>T | ENSP00000291568.5:n.168+53C>T |
| ENST00000480147.1:n.258C>T | |
| ENST00000480147.3:n.1664C>T | |
| ENST00000639959.1:c.36-275C>T | |
| ENST00000640406.1:c.221C>T | ENSP00000492672.1:p.Pro74Leu |
| ENST00000675996.1:n.593+53C>T |