Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181577T>C , CM000668.2:g.32181577T>C	GRCh38
NC_000006.11:g.32149354T>C , CM000668.1:g.32149354T>C	GRCh37
NC_000006.10:g.32257332T>C	NCBI36
NG_029868.1:g.7746A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.991+29A>G MANE Select	ENSP00000364217.4:n.991+29A>G
ENST00000375055.6:c.1020A>G	ENSP00000364195.2:p.Ala340=
ENST00000375065.6:c.178+29A>G	ENSP00000364206.6:n.178+29A>G
ENST00000375067.7:c.836+29A>G	ENSP00000364208.3:n.836+29A>G
ENST00000375069.7:c.1039+29A>G	ENSP00000364210.4:n.1039+29A>G
ENST00000375070.7:c.662-100A>G	ENSP00000364211.4:n.662-100A>G
ENST00000375076.8:c.991+29A>G	ENSP00000364217.4:n.991+29A>G
ENST00000438221.6:c.1068A>G	ENSP00000387887.2:p.Ala356=
ENST00000469940.5:n.59A>G
ENST00000473619.5:n.533+29A>G
ENST00000484849.5:n.1198+29A>G
ENST00000488669.5:n.562A>G
ENST00000620802.4:c.283-144A>G	ENSP00000484081.1:n.283-144A>G
NM_001136.4:c.991+29A>G	NP_001127.1:n.991+29A>G
NM_001206929.1:c.1039+29A>G	NP_001193858.1:n.1039+29A>G
NM_001206932.1:c.949+29A>G	NP_001193861.1:n.949+29A>G
NM_001206934.1:c.1068A>G	NP_001193863.1:p.Ala356=
NM_001206936.1:c.968A>G	NP_001193865.1:p.Gln323Arg
NM_001206940.1:c.1020A>G	NP_001193869.1:p.Ala340=
NM_001206954.1:c.878A>G	NP_001193883.1:p.Gln293Arg
NM_001206966.1:c.1020A>G	NP_001193895.1:p.Ala340=
NM_172197.2:c.836+29A>G	NP_751947.1:n.836+29A>G
NR_038190.1:n.1274+29A>G
XM_017010328.2:c.1019A>G	XP_016865817.1:p.Gln340Arg
XR_001743189.2:n.1055+29A>G
XR_001743190.2:n.1007+29A>G
NM_001136.5:c.991+29A>G MANE Select	NP_001127.1:n.991+29A>G
NM_001206932.2:c.949+29A>G	NP_001193861.1:n.949+29A>G
NM_001206936.2:c.968A>G	NP_001193865.1:p.Gln323Arg
NM_001206940.2:c.1020A>G	NP_001193869.1:p.Ala340=
NM_001206954.2:c.878A>G	NP_001193883.1:p.Gln293Arg
NM_001206966.2:c.1020A>G	NP_001193895.1:p.Ala340=
NM_172197.3:c.836+29A>G	NP_751947.1:n.836+29A>G
NR_038190.2:n.1205+29A>G
NM_001206929.2:c.1039+29A>G	NP_001193858.1:n.1039+29A>G
NM_001206934.2:c.1068A>G	NP_001193863.1:p.Ala356=