Canonical Allele Identifier: CA2682047073

Gene:

Linked Data

• gnomAD v4: 7-24284018-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24284018G>C , CM000669.2:g.24284018G>C	GRCh38
NC_000007.13:g.24323637G>C , CM000669.1:g.24323637G>C	GRCh37
NC_000007.12:g.24290162G>C	NCBI36
NG_016148.1:g.4831G>C

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-28319C>G	XP_016868399.1:n.42-28319C>G
XM_017012911.1:c.42-28319C>G	XP_016868400.1:n.42-28319C>G
XR_001745121.1:n.473+35339C>G
XR_001745122.1:n.345-86989C>G
XR_001745123.1:n.473+35339C>G
XR_001745124.1:n.473+35339C>G
XR_001745125.1:n.473+35339C>G
XR_001745126.1:n.473+35339C>G
XR_001745127.1:n.345-28319C>G
XR_001745129.1:n.473+35339C>G
XR_001745130.1:n.473+35339C>G
XR_001745131.1:n.473+35339C>G
XR_001745132.1:n.473+35339C>G