Canonical Allele Identifier: CA6140889

Linked Data

dbSNP Id: rs376846946

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490252G>T , CM000673.2:g.67490252G>T GRCh38
NC_000011.9:g.67257723G>T , CM000673.1:g.67257723G>T GRCh37
NC_000011.8:g.67014299G>T NCBI36
NG_008969.1:g.12219G>T , LRG_460:g.12219G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.622+38G>T (AIP)
ENST00000528641.7:c.456+38G>T (AIP) ENSP00000434982.3:n.456+38G>T
ENST00000529797.2:n.1157+38G>T (AIP)
ENST00000682324.1:c.469-745G>T (AIP) ENSP00000508017.1:n.469-745G>T
ENST00000682659.1:c.276+38G>T (AIP) ENSP00000507351.1:n.276+38G>T
ENST00000682699.1:c.645+38G>T (AIP) ENSP00000507935.1:n.645+38G>T
ENST00000683237.1:c.645+38G>T (AIP) ENSP00000507343.1:n.645+38G>T
ENST00000683856.1:c.468+38G>T (AIP) ENSP00000507979.1:n.468+38G>T
ENST00000684006.1:c.645+38G>T (AIP) ENSP00000507269.1:n.645+38G>T
ENST00000684657.1:c.465+38G>T (AIP) ENSP00000507961.1:n.465+38G>T
ENST00000279146.8:c.645+38G>T (AIP) MANE Select ENSP00000279146.3:n.645+38G>T
ENST00000279146.7:c.645+38G>T (AIP) ENSP00000279146.3:n.645+38G>T
ENST00000525341.1:c.297+38G>T (AIP) ENSP00000476993.1:n.297+38G>T
ENST00000528641.6:c.456+38G>T (AIP) ENSP00000434982.2:n.456+38G>T
NM_001302959.1:c.468+38G>T (AIP) NP_001289888.1:n.468+38G>T
NM_001302960.1:c.645+38G>T (AIP) NP_001289889.1:n.645+38G>T
NM_003977.3:c.645+38G>T (AIP) NP_003968.3:n.645+38G>T
NR_106810.1:n.8G>T (MIR6752)
XM_024448761.1:c.645+38G>T (AIP) XP_024304529.1:n.645+38G>T
NM_003977.4:c.645+38G>T (AIP) MANE Select NP_003968.3:n.645+38G>T
NM_001302960.2:c.645+38G>T (AIP) NP_001289889.1:n.645+38G>T
NM_001302959.2:c.468+38G>T (AIP) NP_001289888.1:n.468+38G>T