Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144923C>T , CM000670.2:g.96144923C>T | GRCh38 |
| NC_000008.10:g.97157151C>T , CM000670.1:g.97157151C>T | GRCh37 |
| NC_000008.9:g.97226327C>T | NCBI36 |
| NG_008981.1:g.20870G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001557.4:c.1008G>A MANE Select | NP_001001557.1:p.Thr336= |
| ENST00000287020.7:c.1008G>A MANE Select | ENSP00000287020.4:p.Thr336= |
| NM_001001557.2:c.1008G>A | NP_001001557.1:p.Thr336= |
| NM_001001557.3:c.1008G>A | NP_001001557.1:p.Thr336= |
| ENST00000287020.6:c.1008G>A | ENSP00000287020.4:p.Thr336= |
| ENST00000620978.1:c.793+153G>A | ENSP00000480170.1:n.793+153G>A |
| ENST00000621429.1:c.875-118G>A | ENSP00000483711.1:n.875-118G>A |
| XM_011517030.1:c.609G>A | XP_011515332.1:p.Thr203= |