Canonical Allele Identifier: CA397318085

Linked Data

dbSNP Id: rs757486849
gnomAD v2: 17-4836585-T-G
gnomAD v4: 17-4933290-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933290T>G , CM000679.2:g.4933290T>G GRCh38
NC_000017.10:g.4836585T>G , CM000679.1:g.4836585T>G GRCh37
NC_000017.9:g.4777365T>G NCBI36
NG_008767.2:g.5996T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.686T>G (GP1BA) MANE Select ENSP00000329380.5:p.Ile229Ser
ENST00000649830.1:c.-888+1052A>C (CHRNE) ENSP00000496907.1:n.-888+1052A>C
ENST00000329125.5:c.686T>G (GP1BA) ENSP00000329380.5:p.Ile229Ser
ENST00000611961.1:c.686T>G (GP1BA) ENSP00000484439.1:p.Ile229Ser
NM_000173.6:c.686T>G (GP1BA) NP_000164.5:p.Ile229Ser
NM_000173.7:c.686T>G (GP1BA) MANE Select NP_000164.5:p.Ile229Ser