Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10175870C>T , CM000668.2:g.10175870C>T | GRCh38 |
| NC_000006.11:g.10176103C>T , CM000668.1:g.10176103C>T | GRCh37 |
| NC_000006.10:g.10284089C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462111.1:n.164-16371G>A | ||
| ENST00000481704.1:c.-101-16371G>A | ENSP00000418286.1:n.-101-16371G>A | |
| XM_017011612.1:c.-101-16371G>A | XP_016867101.1:n.-101-16371G>A | |
| NR_170155.1:n.232-16371G>A |