Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30969132C>T , CM000669.2:g.30969132C>T | GRCh38 |
| NC_000007.13:g.31008747C>T , CM000669.1:g.31008747C>T | GRCh37 |
| NC_000007.12:g.30975272C>T | NCBI36 |
| NG_021416.1:g.10112C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326139.7:c.230C>T MANE Select | ENSP00000320180.2:p.Pro77Leu | |
| ENST00000326139.6:c.230C>T | ENSP00000320180.2:p.Pro77Leu | |
| NM_000823.3:c.230C>T | NP_000814.2:p.Pro77Leu | |
| NM_000823.4:c.230C>T MANE Select | NP_000814.2:p.Pro77Leu |