Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.43871283C>T , CM000669.2:g.43871283C>T | GRCh38 |
| NC_000007.13:g.43910882C>T , CM000669.1:g.43910882C>T | GRCh37 |
| NC_000007.12:g.43877407C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001204871.1:c.176-1907G>A | NP_001191800.1:n.176-1907G>A |
| NM_001204871.2:c.176-1907G>A | NP_001191800.1:n.176-1907G>A |
| ENST00000603700.1:c.176-1907G>A | ENSP00000473871.1:n.176-1907G>A |