Canonical Allele Identifier:
CA553236614
Gene:
Linked Data
dbSNP Id:
rs1344518993
gnomAD v2:
4-90577008-A-G
gnomAD v3:
4-89655857-A-G
gnomAD v4:
4-89655857-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89655857A>G , CM000666.2:g.89655857A>G | GRCh38 |
| NC_000004.11:g.90577008A>G , CM000666.1:g.90577008A>G | GRCh37 |
| NC_000004.10:g.90796031A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938986.1:n.434+27940A>G | ||
| XR_938987.1:n.688+27940A>G | ||
| XR_938988.1:n.554+27940A>G | ||
| XR_938990.1:n.299-35428A>G | ||
| XR_938991.1:n.434+27940A>G | ||
| XR_938994.1:n.779+27940A>G | ||
| XR_938995.1:n.613+27940A>G | ||
| XR_938986.2:n.459+27940A>G | ||
| XR_938987.2:n.748+27940A>G |