Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942514G>A , CM000678.2:g.67942514G>A | GRCh38 |
| NC_000016.9:g.67976417G>A , CM000678.1:g.67976417G>A | GRCh37 |
| NC_000016.8:g.66533918G>A | NCBI36 |
| NG_009778.1:g.6599C>T | |
| NG_033098.1:g.31181C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000229.2:c.597C>T MANE Select | NP_000220.1:p.Val199= |
| ENST00000264005.10:c.597C>T MANE Select | ENSP00000264005.5:p.Val199= |
| NM_000229.1:c.597C>T | NP_000220.1:p.Val199= |
| ENST00000264005.9:c.597C>T | ENSP00000264005.5:p.Val199= |
| ENST00000570369.5:c.155+347C>T | |
| ENST00000570980.1:c.381C>T | ENSP00000464651.1:p.Val127= |
| ENST00000573538.5:c.240C>T | ENSP00000463220.1:p.Val80= |
| ENST00000573846.1:n.211C>T | |
| ENST00000575277.1:n.458C>T | |
| ENST00000575467.5:c.*292C>T | ENSP00000460653.1:n.*292C>T |
| ENST00000576450.1:c.64C>T |