Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21527777C>T , CM000674.2:g.21527777C>T | GRCh38 |
| NC_000012.11:g.21680711C>T , CM000674.1:g.21680711C>T | GRCh37 |
| NC_000012.10:g.21571978C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030572.4:c.196C>T MANE Select | NP_085049.1:p.Arg66Trp |
| ENST00000256969.7:c.196C>T MANE Select | ENSP00000256969.2:p.Arg66Trp |
| NM_030572.2:c.196C>T | NP_085049.1:p.Arg66Trp |
| NM_030572.3:c.196C>T | NP_085049.1:p.Arg66Trp |
| NR_135187.1:n.343C>T | |
| NR_135187.2:n.247C>T | |
| ENST00000256969.6:c.196C>T | ENSP00000256969.2:p.Arg66Trp |
| ENST00000535033.5:n.200C>T | |
| ENST00000535139.5:n.343C>T | |
| ENST00000544637.5:n.78C>T | |
| ENST00000546199.1:c.73C>T | ENSP00000440877.1:p.Arg25Trp |
| ENST00000649016.1:n.245C>T |