Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181529C>A , CM000668.2:g.32181529C>A	GRCh38
NC_000006.11:g.32149306C>A , CM000668.1:g.32149306C>A	GRCh37
NC_000006.10:g.32257284C>A	NCBI36
NG_029868.1:g.7794G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.992-52G>T MANE Select	ENSP00000364217.4:n.992-52G>T
ENST00000375055.6:c.*24G>T	ENSP00000364195.2:n.*24G>T
ENST00000375065.6:c.179-52G>T	ENSP00000364206.6:n.179-52G>T
ENST00000375067.7:c.837-52G>T	ENSP00000364208.3:n.837-52G>T
ENST00000375069.7:c.1040-52G>T	ENSP00000364210.4:n.1040-52G>T
ENST00000375070.7:c.662-52G>T	ENSP00000364211.4:n.662-52G>T
ENST00000375076.8:c.992-52G>T	ENSP00000364217.4:n.992-52G>T
ENST00000438221.6:c.*24G>T	ENSP00000387887.2:n.*24G>T
ENST00000469940.5:n.107G>T
ENST00000473619.5:n.534-52G>T
ENST00000484849.5:n.1199-52G>T
ENST00000488669.5:n.610G>T
ENST00000620802.4:c.283-96G>T	ENSP00000484081.1:n.283-96G>T
NM_001136.4:c.992-52G>T	NP_001127.1:n.992-52G>T
NM_001206929.1:c.1040-52G>T	NP_001193858.1:n.1040-52G>T
NM_001206932.1:c.950-52G>T	NP_001193861.1:n.950-52G>T
NM_001206934.1:c.*24G>T	NP_001193863.1:n.*24G>T
NM_001206936.1:c.1016G>T	NP_001193865.1:p.Arg339Met
NM_001206940.1:c.*24G>T	NP_001193869.1:n.*24G>T
NM_001206954.1:c.926G>T	NP_001193883.1:p.Arg309Met
NM_001206966.1:c.*24G>T	NP_001193895.1:n.*24G>T
NM_172197.2:c.837-52G>T	NP_751947.1:n.837-52G>T
NR_038190.1:n.1275-52G>T
XM_017010328.2:c.1067G>T	XP_016865817.1:p.Arg356Met
XR_001743189.2:n.1056-52G>T
XR_001743190.2:n.1008-52G>T
NM_001136.5:c.992-52G>T MANE Select	NP_001127.1:n.992-52G>T
NM_001206932.2:c.950-52G>T	NP_001193861.1:n.950-52G>T
NM_001206936.2:c.1016G>T	NP_001193865.1:p.Arg339Met
NM_001206940.2:c.*24G>T	NP_001193869.1:n.*24G>T
NM_001206954.2:c.926G>T	NP_001193883.1:p.Arg309Met
NM_001206966.2:c.*24G>T	NP_001193895.1:n.*24G>T
NM_172197.3:c.837-52G>T	NP_751947.1:n.837-52G>T
NR_038190.2:n.1206-52G>T
NM_001206929.2:c.1040-52G>T	NP_001193858.1:n.1040-52G>T
NM_001206934.2:c.*24G>T	NP_001193863.1:n.*24G>T