Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40134320G>A , CM000669.2:g.40134320G>A | GRCh38 |
| NC_000007.13:g.40173919G>A , CM000669.1:g.40173919G>A | GRCh37 |
| NC_000007.12:g.40140444G>A | NCBI36 |
| NG_016989.2:g.5333C>T | |
| NG_023422.1:g.4345G>A | |
| NG_023422.2:g.4345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306984.8:c.248C>T MANE Select | ENSP00000304553.5:p.Pro83Leu | |
| ENST00000306984.6:c.248C>T | ENSP00000304553.5:p.Pro83Leu | |
| NM_138701.3:c.248C>T | NP_619646.1:p.Pro83Leu | |
| NM_138701.4:c.248C>T MANE Select | NP_619646.1:p.Pro83Leu |