Canonical Allele Identifier: CA397322057

Linked Data

dbSNP Id: rs1286025048
gnomAD v3: 17-4934102-C-G
gnomAD v4: 17-4934102-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4934102C>G , CM000679.2:g.4934102C>G GRCh38
NC_000017.10:g.4837397C>G , CM000679.1:g.4837397C>G GRCh37
NC_000017.9:g.4778138C>G NCBI36
NG_008767.2:g.6808C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.1498C>G (GP1BA) MANE Select ENSP00000329380.5:p.Gln500Glu
ENST00000649830.1:c.-888+240G>C (CHRNE) ENSP00000496907.1:n.-888+240G>C
ENST00000329125.5:c.1498C>G (GP1BA) ENSP00000329380.5:p.Gln500Glu
ENST00000611961.1:c.1420C>G (GP1BA) ENSP00000484439.1:p.Gln474Glu
NM_000173.6:c.1498C>G (GP1BA) NP_000164.5:p.Gln500Glu
NM_000173.7:c.1498C>G (GP1BA) MANE Select NP_000164.5:p.Gln500Glu