Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812317A>C , CM000669.2:g.155812317A>C | GRCh38 |
| NC_000007.13:g.155605011A>C , CM000669.1:g.155605011A>C | GRCh37 |
| NC_000007.12:g.155297772A>C | NCBI36 |
| NG_007504.2:g.4957T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.-195T>G MANE Select | ENSP00000297261.2:n.-195T>G | |
| NM_000193.4:c.-195T>G MANE Select | NP_000184.1:n.-195T>G |