Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45645595A>G , CM000667.2:g.45645595A>G | GRCh38 |
| NC_000005.9:g.45645697A>G , CM000667.1:g.45645697A>G | GRCh37 |
| NC_000005.8:g.45681454A>G | NCBI36 |
| NG_042183.1:g.55524T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.439T>C MANE Select | ENSP00000307342.4:p.Leu147= | |
| ENST00000673735.1:c.439T>C | ENSP00000501107.1:p.Leu147= | |
| ENST00000303230.5:c.439T>C | ENSP00000307342.4:p.Leu147= | |
| ENST00000634658.1:c.439T>C | ENSP00000489134.1:p.Leu147= | |
| NM_021072.3:c.439T>C | NP_066550.2:p.Leu147= | |
| NM_021072.4:c.439T>C MANE Select | NP_066550.2:p.Leu147= |