Canonical Allele Identifier:
CA103381279
Gene:
Linked Data
dbSNP Id:
rs554857164
gnomAD v2:
4-106463645-T-C
gnomAD v3:
4-105542488-T-C
gnomAD v4:
4-105542488-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105542488T>C , CM000666.2:g.105542488T>C | GRCh38 |
| NC_000004.11:g.106463645T>C , CM000666.1:g.106463645T>C | GRCh37 |
| NC_000004.10:g.106683094T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939038.1:n.517A>G | ||
| XR_939039.1:n.677A>G | ||
| XR_939040.1:n.296-1012A>G | ||
| XR_001741410.1:n.532A>G | ||
| XR_001741411.1:n.1008A>G | ||
| XR_001741412.1:n.449+83A>G | ||
| XR_001741413.1:n.532A>G | ||
| XR_001741414.1:n.449+83A>G | ||
| XR_939038.2:n.532A>G | ||
| XR_939040.2:n.311-1012A>G |