Canonical Allele Identifier: CA8314861

Linked Data

dbSNP Id: rs779720112
gnomAD v2: 17-4836834-T-G
gnomAD v4: 17-4933539-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933539T>G , CM000679.2:g.4933539T>G GRCh38
NC_000017.10:g.4836834T>G , CM000679.1:g.4836834T>G GRCh37
NC_000017.9:g.4777614T>G NCBI36
NG_008767.2:g.6245T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.935T>G (GP1BA) MANE Select ENSP00000329380.5:p.Val312Gly
ENST00000649830.1:c.-888+803A>C (CHRNE) ENSP00000496907.1:n.-888+803A>C
ENST00000329125.5:c.935T>G (GP1BA) ENSP00000329380.5:p.Val312Gly
ENST00000611961.1:c.935T>G (GP1BA) ENSP00000484439.1:p.Val312Gly
NM_000173.6:c.935T>G (GP1BA) NP_000164.5:p.Val312Gly
NM_000173.7:c.935T>G (GP1BA) MANE Select NP_000164.5:p.Val312Gly