Canonical Allele Identifier: CA287216363

Linked Data

dbSNP Id: rs1035067086
gnomAD v3: 17-4933241-C-G
gnomAD v4: 17-4933241-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933241C>G , CM000679.2:g.4933241C>G GRCh38
NC_000017.10:g.4836536C>G , CM000679.1:g.4836536C>G GRCh37
NC_000017.9:g.4777316C>G NCBI36
NG_008767.2:g.5947C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.637C>G (GP1BA) MANE Select ENSP00000329380.5:p.Leu213Val
ENST00000649830.1:c.-888+1101G>C (CHRNE) ENSP00000496907.1:n.-888+1101G>C
ENST00000329125.5:c.637C>G (GP1BA) ENSP00000329380.5:p.Leu213Val
ENST00000611961.1:c.637C>G (GP1BA) ENSP00000484439.1:p.Leu213Val
NM_000173.6:c.637C>G (GP1BA) NP_000164.5:p.Leu213Val
NM_000173.7:c.637C>G (GP1BA) MANE Select NP_000164.5:p.Leu213Val