Canonical Allele Identifier: CA12999721

Linked Data

dbSNP Id: rs2416808

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120944005G>A , CM000671.2:g.120944005G>A GRCh38
NC_000009.11:g.123706283G>A , CM000671.1:g.123706283G>A GRCh37
NC_000009.10:g.122746104G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000696279.1:c.5898+8187C>T (C5)
ENST00000696280.1:n.5667+8187C>T (C5)
ENST00000696281.1:c.*547+8187C>T (C5) ENSP00000512521.1:n.*547+8187C>T
ENST00000697921.1:n.4456+8187C>T (C5)
ENST00000697922.1:c.*5568+8187C>T (C5) ENSP00000513478.1:n.*5568+8187C>T
NR_148450.1:n.641-496C>T (C5-OT1)