Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10175720A>G , CM000668.2:g.10175720A>G | GRCh38 |
| NC_000006.11:g.10175953A>G , CM000668.1:g.10175953A>G | GRCh37 |
| NC_000006.10:g.10283939A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462111.1:n.164-16221T>C | ||
| ENST00000481704.1:c.-101-16221T>C | ENSP00000418286.1:n.-101-16221T>C | |
| XM_017011612.1:c.-101-16221T>C | XP_016867101.1:n.-101-16221T>C | |
| NR_170155.1:n.232-16221T>C |