Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.632317G>T , CM000663.2:g.632317G>T | GRCh38 |
| NC_000001.10:g.567697G>T , CM000663.1:g.567697G>T | GRCh37 |
| NC_000001.9:g.557560G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419394.2:n.481-45362C>A | ||
| ENST00000440196.3:n.86+727C>A | ||
| ENST00000440200.5:n.170-24261C>A | ||
| ENST00000634337.2:n.161-24261C>A | ||
| ENST00000635509.2:n.313-30740C>A | ||
| ENST00000648019.1:n.636-24261C>A | ||
| ENST00000414273.1:n.1244G>T |