Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056636G>A , CM000663.2:g.94056636G>A | GRCh38 |
| NC_000001.10:g.94522192G>A , CM000663.1:g.94522192G>A | GRCh37 |
| NC_000001.9:g.94294780G>A | NCBI36 |
| NG_009073.1:g.69514C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.2347C>T MANE Select | NP_000341.2:p.Gln783Ter |
| ENST00000370225.4:c.2347C>T MANE Select | ENSP00000359245.3:p.Gln783Ter |
| NM_000350.2:c.2347C>T | NP_000341.2:p.Gln783Ter |
| ENST00000370225.3:c.2347C>T | ENSP00000359245.3:p.Gln783Ter |
| ENST00000536513.5:c.-65+6538C>T | ENSP00000439707.2:n.-65+6538C>T |
| ENST00000649773.1:c.2161-1321C>T | ENSP00000496882.1:n.2161-1321C>T |