Canonical Allele Identifier: CA397319385

Linked Data

dbSNP Id: rs1488288652
gnomAD v3: 17-4933563-C-T
gnomAD v4: 17-4933563-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933563C>T , CM000679.2:g.4933563C>T GRCh38
NC_000017.10:g.4836858C>T , CM000679.1:g.4836858C>T GRCh37
NC_000017.9:g.4777638C>T NCBI36
NG_008767.2:g.6269C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.959C>T (GP1BA) MANE Select ENSP00000329380.5:p.Thr320Ile
ENST00000649830.1:c.-888+779G>A (CHRNE) ENSP00000496907.1:n.-888+779G>A
ENST00000329125.5:c.959C>T (GP1BA) ENSP00000329380.5:p.Thr320Ile
ENST00000611961.1:c.959C>T (GP1BA) ENSP00000484439.1:p.Thr320Ile
NM_000173.6:c.959C>T (GP1BA) NP_000164.5:p.Thr320Ile
NM_000173.7:c.959C>T (GP1BA) MANE Select NP_000164.5:p.Thr320Ile