Canonical Allele Identifier: CA397317794

Linked Data

dbSNP Id: rs2151107928

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933235C>T , CM000679.2:g.4933235C>T GRCh38
NC_000017.10:g.4836530C>T , CM000679.1:g.4836530C>T GRCh37
NC_000017.9:g.4777310C>T NCBI36
NG_008767.2:g.5941C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.631C>T (GP1BA) MANE Select ENSP00000329380.5:p.His211Tyr
ENST00000649830.1:c.-888+1107G>A (CHRNE) ENSP00000496907.1:n.-888+1107G>A
ENST00000329125.5:c.631C>T (GP1BA) ENSP00000329380.5:p.His211Tyr
ENST00000611961.1:c.631C>T (GP1BA) ENSP00000484439.1:p.His211Tyr
NM_000173.6:c.631C>T (GP1BA) NP_000164.5:p.His211Tyr
NM_000173.7:c.631C>T (GP1BA) MANE Select NP_000164.5:p.His211Tyr