Canonical Allele Identifier: CA13095938
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33750239C>T , CM000671.2:g.33750239C>T GRCh38
NC_000009.11:g.33750237C>T , CM000671.1:g.33750237C>T GRCh37
NC_000009.10:g.33740237C>T NCBI36
NG_029635.1:g.4774C>T

Transcript Alleles

HGVS Amino-acid Change
NR_170201.1:n.370-11823G>A
NR_170202.1:n.559-11823G>A
NR_170203.1:n.560-11823G>A
NR_170204.1:n.559-11823G>A
NR_170205.1:n.560-11823G>A
NR_170206.1:n.560-6592G>A
NR_170207.1:n.777-11823G>A
NR_170208.1:n.559-6592G>A
NR_170209.1:n.560-6592G>A
NR_170210.1:n.981-11823G>A
NR_170211.1:n.909-6592G>A
NR_170212.1:n.370-11823G>A
NR_170213.1:n.1004-6592G>A
NR_170215.1:n.463-11823G>A
NR_170216.1:n.560-11823G>A