Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.40134452G>T , CM000669.2:g.40134452G>T | GRCh38 |
| NC_000007.13:g.40174051G>T , CM000669.1:g.40174051G>T | GRCh37 |
| NC_000007.12:g.40140576G>T | NCBI36 |
| NG_016989.2:g.5201C>A | |
| NG_023422.1:g.4477G>T | |
| NG_023422.2:g.4477G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138701.4:c.116C>A MANE Select | NP_619646.1:p.Pro39His |
| ENST00000306984.8:c.116C>A MANE Select | ENSP00000304553.5:p.Pro39His |
| NM_138701.3:c.116C>A | NP_619646.1:p.Pro39His |
| ENST00000306984.6:c.116C>A | ENSP00000304553.5:p.Pro39His |