Canonical Allele Identifier: CA2269950697

Gene:

Linked Data

• dbSNP Id: rs2030906917
• gnomAD v4: 17-63498398-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63498398G>T , CM000679.2:g.63498398G>T	GRCh38
NC_000017.10:g.61575759G>T , CM000679.1:g.61575759G>T	GRCh37
NC_000017.9:g.58929491G>T	NCBI36
NG_011648.1:g.26326G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000577647.2:c.1969+1413G>T	ENSP00000464149.1:n.1969+1413G>T