Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94051677G>A , CM000663.2:g.94051677G>A | GRCh38 |
| NC_000001.10:g.94517233G>A , CM000663.1:g.94517233G>A | GRCh37 |
| NC_000001.9:g.94289821G>A | NCBI36 |
| NG_009073.1:g.74473C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.2609C>T MANE Select | NP_000341.2:p.Pro870Leu |
| ENST00000370225.4:c.2609C>T MANE Select | ENSP00000359245.3:p.Pro870Leu |
| NM_000350.2:c.2609C>T | NP_000341.2:p.Pro870Leu |
| ENST00000370225.3:c.2609C>T | ENSP00000359245.3:p.Pro870Leu |
| ENST00000536513.5:c.-65+11497C>T | ENSP00000439707.2:n.-65+11497C>T |
| ENST00000649773.1:c.2387C>T | ENSP00000496882.1:p.Pro796Leu |