Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48560442G>C , CM000674.2:g.48560442G>C | GRCh38 |
| NC_000012.11:g.48954225G>C , CM000674.1:g.48954225G>C | GRCh37 |
| NC_000012.10:g.47240492G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328207.6:n.561G>C | ||
| NM_001396061.1:c.561G>C MANE Select | NP_001382990.1:p.Leu187Phe |