Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144476093C>T , CM000670.2:g.144476093C>T | GRCh38 |
| NC_000008.10:g.145701476C>T , CM000670.1:g.145701476C>T | GRCh37 |
| NC_000008.9:g.145672284C>T | NCBI36 |
| NG_030003.1:g.5243G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003923.2:c.-337G>A | NP_003914.1:n.-337G>A |
| ENST00000377317.4:c.-337G>A | ENSP00000366534.4:n.-337G>A |