Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812339G>C , CM000669.2:g.155812339G>C | GRCh38 |
| NC_000007.13:g.155605033G>C , CM000669.1:g.155605033G>C | GRCh37 |
| NC_000007.12:g.155297794G>C | NCBI36 |
| NG_007504.2:g.4935C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.-217C>G MANE Select | ENSP00000297261.2:n.-217C>G | |
| NM_000193.4:c.-217C>G MANE Select | NP_000184.1:n.-217C>G |