Canonical Allele Identifier:
CA1482797444
Gene:
Linked Data
dbSNP Id:
rs1724778388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105542466C>G , CM000666.2:g.105542466C>G | GRCh38 |
| NC_000004.11:g.106463623C>G , CM000666.1:g.106463623C>G | GRCh37 |
| NC_000004.10:g.106683072C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939038.1:n.539G>C | ||
| XR_939039.1:n.699G>C | ||
| XR_939040.1:n.296-990G>C | ||
| XR_001741410.1:n.554G>C | ||
| XR_001741411.1:n.1030G>C | ||
| XR_001741412.1:n.449+105G>C | ||
| XR_001741413.1:n.554G>C | ||
| XR_001741414.1:n.449+105G>C | ||
| XR_939038.2:n.554G>C | ||
| XR_939040.2:n.311-990G>C |