Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67135003G>A , CM000663.2:g.67135003G>A | GRCh38 |
| NC_000001.10:g.67600686G>A , CM000663.1:g.67600686G>A | GRCh37 |
| NC_000001.9:g.67373274G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371007.6:c.-103-3776C>T | ENSP00000360046.1:n.-103-3776C>T | |
| ENST00000448166.6:c.-103-3776C>T | ENSP00000415519.2:n.-103-3776C>T | |
| XM_011541464.1:c.-177C>T | XP_011539766.1:n.-177C>T | |
| XM_011541465.1:c.-91C>T | XP_011539767.1:n.-91C>T | |
| XM_011541466.1:c.-18+6611C>T | XP_011539768.1:n.-18+6611C>T | |
| XM_011541471.1:c.-177C>T | XP_011539773.1:n.-177C>T | |
| XM_011541466.2:c.-18+6611C>T | XP_011539768.1:n.-18+6611C>T |