Canonical Allele Identifier: CA6140887

Linked Data

dbSNP Id: rs760363160

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490251G>C , CM000673.2:g.67490251G>C GRCh38
NC_000011.9:g.67257722G>C , CM000673.1:g.67257722G>C GRCh37
NC_000011.8:g.67014298G>C NCBI36
NG_008969.1:g.12218G>C , LRG_460:g.12218G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.622+37G>C (AIP)
ENST00000528641.7:c.456+37G>C (AIP) ENSP00000434982.3:n.456+37G>C
ENST00000529797.2:n.1157+37G>C (AIP)
ENST00000682324.1:c.469-746G>C (AIP) ENSP00000508017.1:n.469-746G>C
ENST00000682659.1:c.276+37G>C (AIP) ENSP00000507351.1:n.276+37G>C
ENST00000682699.1:c.645+37G>C (AIP) ENSP00000507935.1:n.645+37G>C
ENST00000683237.1:c.645+37G>C (AIP) ENSP00000507343.1:n.645+37G>C
ENST00000683856.1:c.468+37G>C (AIP) ENSP00000507979.1:n.468+37G>C
ENST00000684006.1:c.645+37G>C (AIP) ENSP00000507269.1:n.645+37G>C
ENST00000684657.1:c.465+37G>C (AIP) ENSP00000507961.1:n.465+37G>C
ENST00000279146.8:c.645+37G>C (AIP) MANE Select ENSP00000279146.3:n.645+37G>C
ENST00000279146.7:c.645+37G>C (AIP) ENSP00000279146.3:n.645+37G>C
ENST00000525341.1:c.297+37G>C (AIP) ENSP00000476993.1:n.297+37G>C
ENST00000528641.6:c.456+37G>C (AIP) ENSP00000434982.2:n.456+37G>C
NM_001302959.1:c.468+37G>C (AIP) NP_001289888.1:n.468+37G>C
NM_001302960.1:c.645+37G>C (AIP) NP_001289889.1:n.645+37G>C
NM_003977.3:c.645+37G>C (AIP) NP_003968.3:n.645+37G>C
NR_106810.1:n.7G>C (MIR6752)
XM_024448761.1:c.645+37G>C (AIP) XP_024304529.1:n.645+37G>C
NM_003977.4:c.645+37G>C (AIP) MANE Select NP_003968.3:n.645+37G>C
NM_001302960.2:c.645+37G>C (AIP) NP_001289889.1:n.645+37G>C
NM_001302959.2:c.468+37G>C (AIP) NP_001289888.1:n.468+37G>C