Canonical Allele Identifier:
CA103381285
Gene:
Linked Data
dbSNP Id:
rs1049493696
gnomAD v2:
4-106463676-T-C
gnomAD v3:
4-105542519-T-C
gnomAD v4:
4-105542519-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105542519T>C , CM000666.2:g.105542519T>C | GRCh38 |
| NC_000004.11:g.106463676T>C , CM000666.1:g.106463676T>C | GRCh37 |
| NC_000004.10:g.106683125T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939038.1:n.486A>G | ||
| XR_939039.1:n.646A>G | ||
| XR_939040.1:n.296-1043A>G | ||
| XR_001741410.1:n.501A>G | ||
| XR_001741411.1:n.977A>G | ||
| XR_001741412.1:n.449+52A>G | ||
| XR_001741413.1:n.501A>G | ||
| XR_001741414.1:n.449+52A>G | ||
| XR_939038.2:n.501A>G | ||
| XR_939040.2:n.311-1043A>G |