Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40133134T>C , CM000669.2:g.40133134T>C | GRCh38 |
| NC_000007.13:g.40172733T>C , CM000669.1:g.40172733T>C | GRCh37 |
| NC_000007.12:g.40139258T>C | NCBI36 |
| NG_016989.2:g.6519A>G | |
| NG_023422.1:g.3159T>C | |
| NG_023422.2:g.3159T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306984.8:c.465A>G MANE Select | ENSP00000304553.5:p.Val155= | |
| ENST00000306984.6:c.465A>G | ENSP00000304553.5:p.Val155= | |
| NM_138701.3:c.465A>G | NP_619646.1:p.Val155= | |
| NM_138701.4:c.465A>G MANE Select | NP_619646.1:p.Val155= |