Canonical Allele Identifier:
CA11879186
Gene:
Linked Data
dbSNP Id:
rs17049741
gnomAD v2:
4-138582711-G-A
gnomAD v3:
4-137661557-G-A
gnomAD v4:
4-137661557-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.137661557G>A , CM000666.2:g.137661557G>A | GRCh38 |
| NC_000004.11:g.138582711G>A , CM000666.1:g.138582711G>A | GRCh37 |
| NC_000004.10:g.138802161G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_244724.2:n.121+1734C>T | ||
| XR_244725.2:n.330-895C>T | ||
| XR_427606.2:n.330-13098C>T | ||
| XR_939226.1:n.327-13098C>T | ||
| XR_939227.1:n.330-13098C>T | ||
| XR_939228.1:n.327-13098C>T | ||
| XR_939231.1:n.237-13098C>T | ||
| XR_939232.1:n.330-13098C>T | ||
| XR_939233.1:n.330-13098C>T | ||
| XR_001741838.1:n.315-13098C>T | ||
| XR_001741839.1:n.423-13098C>T | ||
| XR_001741840.1:n.219-13098C>T | ||
| XR_001741841.1:n.313-13098C>T | ||
| XR_244724.3:n.169+1734C>T | ||
| XR_427606.3:n.310-13098C>T | ||
| XR_939227.2:n.314-13098C>T | ||
| XR_939228.2:n.311-13098C>T |