Canonical Allele Identifier:
CA2762952394
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105542555A>G , CM000666.2:g.105542555A>G | GRCh38 |
| NC_000004.11:g.106463712A>G , CM000666.1:g.106463712A>G | GRCh37 |
| NC_000004.10:g.106683161A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939038.1:n.450T>C | ||
| XR_939039.1:n.610T>C | ||
| XR_939040.1:n.296-1079T>C | ||
| XR_001741410.1:n.465T>C | ||
| XR_001741411.1:n.941T>C | ||
| XR_001741412.1:n.449+16T>C | ||
| XR_001741413.1:n.465T>C | ||
| XR_001741414.1:n.449+16T>C | ||
| XR_939038.2:n.465T>C | ||
| XR_939040.2:n.311-1079T>C |