Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10175846A>C , CM000668.2:g.10175846A>C | GRCh38 |
| NC_000006.11:g.10176079A>C , CM000668.1:g.10176079A>C | GRCh37 |
| NC_000006.10:g.10284065A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462111.1:n.164-16347T>G | ||
| ENST00000481704.1:c.-101-16347T>G | ENSP00000418286.1:n.-101-16347T>G | |
| XM_017011612.1:c.-101-16347T>G | XP_016867101.1:n.-101-16347T>G | |
| NR_170155.1:n.232-16347T>G |