Canonical Allele Identifier:
CA2762952390
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105542505G>T , CM000666.2:g.105542505G>T | GRCh38 |
| NC_000004.11:g.106463662G>T , CM000666.1:g.106463662G>T | GRCh37 |
| NC_000004.10:g.106683111G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939038.1:n.500C>A | ||
| XR_939039.1:n.660C>A | ||
| XR_939040.1:n.296-1029C>A | ||
| XR_001741410.1:n.515C>A | ||
| XR_001741411.1:n.991C>A | ||
| XR_001741412.1:n.449+66C>A | ||
| XR_001741413.1:n.515C>A | ||
| XR_001741414.1:n.449+66C>A | ||
| XR_939038.2:n.515C>A | ||
| XR_939040.2:n.311-1029C>A |