Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10175803G>T , CM000668.2:g.10175803G>T | GRCh38 |
| NC_000006.11:g.10176036G>T , CM000668.1:g.10176036G>T | GRCh37 |
| NC_000006.10:g.10284022G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_170155.1:n.232-16304C>A | |
| ENST00000462111.1:n.164-16304C>A | |
| ENST00000481704.1:c.-101-16304C>A | ENSP00000418286.1:n.-101-16304C>A |
| XM_017011612.1:c.-101-16304C>A | XP_016867101.1:n.-101-16304C>A |