Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67135269C>T , CM000663.2:g.67135269C>T | GRCh38 |
| NC_000001.10:g.67600952C>T , CM000663.1:g.67600952C>T | GRCh37 |
| NC_000001.9:g.67373540C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371007.6:c.-103-4042G>A | ENSP00000360046.1:n.-103-4042G>A | |
| ENST00000448166.6:c.-103-4042G>A | ENSP00000415519.2:n.-103-4042G>A | |
| XM_011541466.1:c.-18+6345G>A | XP_011539768.1:n.-18+6345G>A | |
| XM_011541466.2:c.-18+6345G>A | XP_011539768.1:n.-18+6345G>A |