Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40134455G>C , CM000669.2:g.40134455G>C | GRCh38 |
| NC_000007.13:g.40174054G>C , CM000669.1:g.40174054G>C | GRCh37 |
| NC_000007.12:g.40140579G>C | NCBI36 |
| NG_016989.2:g.5198C>G | |
| NG_023422.1:g.4480G>C | |
| NG_023422.2:g.4480G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138701.4:c.113C>G MANE Select | NP_619646.1:p.Pro38Arg |
| ENST00000306984.8:c.113C>G MANE Select | ENSP00000304553.5:p.Pro38Arg |
| NM_138701.3:c.113C>G | NP_619646.1:p.Pro38Arg |
| ENST00000306984.6:c.113C>G | ENSP00000304553.5:p.Pro38Arg |