Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516153C>T , CM000679.2:g.75516153C>T | GRCh38 |
| NC_000017.10:g.73512234C>T , CM000679.1:g.73512234C>T | GRCh37 |
| NC_000017.9:g.71023829C>T | NCBI36 |
| NG_013041.1:g.4626C>T | |
| NG_033152.1:g.4431G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-316C>T | ENSP00000406559.4:n.-316C>T | |
| ENST00000679370.1:n.210C>T | ||
| ENST00000434205.7:c.-316C>T | ENSP00000406559.3:n.-316C>T | |
| XM_006721821.2:c.-481C>T | XP_006721884.1:n.-481C>T |