Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165876017G>T , CM000664.2:g.165876017G>T	GRCh38
NC_000002.11:g.166732527G>T , CM000664.1:g.166732527G>T	GRCh37
NC_000002.10:g.166440773G>T	NCBI36
NG_030345.1:g.82822C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024753.5:c.3873+148C>A MANE Select	NP_079029.3:n.3873+148C>A
ENST00000243344.8:c.3873+148C>A MANE Select	ENSP00000243344.7:n.3873+148C>A
NM_024753.4:c.3873+148C>A	NP_079029.3:n.3873+148C>A
ENST00000243344.7:c.3873+148C>A	ENSP00000243344.7:n.3873+148C>A
ENST00000392695.6:c.773+148C>A
ENST00000652557.1:c.3805+4662C>A	ENSP00000498617.1:n.3805+4662C>A
ENST00000679356.1:c.3870+148C>A	ENSP00000506245.1:n.3870+148C>A
ENST00000679676.1:c.3762+148C>A	ENSP00000505492.1:n.3762+148C>A
ENST00000679799.1:c.3805+4662C>A	ENSP00000505208.1:n.3805+4662C>A
ENST00000679931.1:c.*2915+148C>A	ENSP00000505632.1:n.*2915+148C>A
ENST00000679967.1:c.3864+148C>A	ENSP00000506607.1:n.3864+148C>A
ENST00000680327.1:c.*2915+148C>A	ENSP00000506639.1:n.*2915+148C>A
ENST00000680657.1:n.4132C>A
ENST00000680690.1:c.*3125+148C>A	ENSP00000506121.1:n.*3125+148C>A
ENST00000680888.1:c.3873+148C>A	ENSP00000506276.1:n.3873+148C>A
ENST00000680947.1:c.*3145+148C>A	ENSP00000506496.1:n.*3145+148C>A
ENST00000681024.1:c.*3663+148C>A	ENSP00000506449.1:n.*3663+148C>A
ENST00000681083.1:c.*3604+148C>A	ENSP00000506095.1:n.*3604+148C>A
ENST00000681167.1:n.3751+148C>A
ENST00000681483.1:c.*683+148C>A	ENSP00000505499.1:n.*683+148C>A
ENST00000681502.1:c.*7133+148C>A	ENSP00000505644.1:n.*7133+148C>A
ENST00000681819.1:c.*683+148C>A	ENSP00000505673.1:n.*683+148C>A
ENST00000681952.1:c.3873+148C>A	ENSP00000506400.1:n.3873+148C>A
XM_011511870.1:c.3306+148C>A	XP_011510172.1:n.3306+148C>A
XM_011511871.1:c.3123+148C>A	XP_011510173.1:n.3123+148C>A
XM_011511871.3:c.3123+148C>A	XP_011510173.1:n.3123+148C>A
XM_011511872.2:c.*1075+148C>A	XP_011510174.1:n.*1075+148C>A
XM_017004968.2:c.3219+148C>A	XP_016860457.1:n.3219+148C>A
XM_017004969.1:c.2874+148C>A	XP_016860458.1:n.2874+148C>A