Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940423G>A , CM000678.2:g.67940423G>A | GRCh38 |
| NC_000016.9:g.67974326G>A , CM000678.1:g.67974326G>A | GRCh37 |
| NC_000016.8:g.66531827G>A | NCBI36 |
| NG_009778.1:g.8690C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.804C>T MANE Select | ENSP00000264005.5:p.Arg268= | |
| ENST00000264005.9:c.804C>T | ENSP00000264005.5:p.Arg268= | |
| ENST00000570369.5:c.156-349C>T | ||
| ENST00000570980.1:c.588C>T | ENSP00000464651.1:p.Arg196= | |
| ENST00000573538.5:c.542C>T | ENSP00000463220.1:n.542C>T | |
| NM_000229.1:c.804C>T | NP_000220.1:p.Arg268= | |
| NM_000229.2:c.804C>T MANE Select | NP_000220.1:p.Arg268= |