Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84194777G>A , CM000672.2:g.84194777G>A | GRCh38 |
| NC_000010.10:g.85954533G>A , CM000672.1:g.85954533G>A | GRCh37 |
| NC_000010.9:g.85944513G>A | NCBI36 |
| NG_028034.1:g.5122G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033100.4:c.17G>A MANE Select | NP_149091.1:p.Trp6Ter |
| ENST00000623527.4:c.17G>A MANE Select | ENSP00000485478.1:p.Trp6Ter |
| NM_001171971.2:c.17G>A | NP_001165442.1:p.Trp6Ter |
| NM_001171971.3:c.17G>A | NP_001165442.1:p.Trp6Ter |
| NM_033100.3:c.17G>A | NP_149091.1:p.Trp6Ter |
| ENST00000332904.7:c.17G>A | ENSP00000331063.3:p.Trp6Ter |
| ENST00000623527.3:c.17G>A | ENSP00000485478.1:p.Trp6Ter |
| XM_011540339.1:c.-363G>A | XP_011538641.1:n.-363G>A |