dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.10048517C>A , CM000666.2:g.10048517C>A | GRCh38 |
| NC_000004.11:g.10050141C>A , CM000666.1:g.10050141C>A | GRCh37 |
| NC_000004.10:g.9659239C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506583.5:c.-176+6316G>T | ENSP00000422209.1:n.-176+6316G>T | |
| ENST00000513129.1:c.-41+6316G>T | ENSP00000426800.1:n.-41+6316G>T |