Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220910T>C , CM000679.2:g.7220910T>C	GRCh38
NC_000017.10:g.7124229T>C , CM000679.1:g.7124229T>C	GRCh37
NC_000017.9:g.7064953T>C	NCBI36
NG_007975.1:g.6077T>C
NG_008391.2:g.4141A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.343-14T>C MANE Select	NP_000009.1:n.343-14T>C
ENST00000356839.10:c.343-14T>C MANE Select	ENSP00000349297.5:n.343-14T>C
NM_000018.3:c.343-14T>C	NP_000009.1:n.343-14T>C
NM_001033859.2:c.277-14T>C	NP_001029031.1:n.277-14T>C
NM_001033859.3:c.277-14T>C	NP_001029031.1:n.277-14T>C
NM_001270447.1:c.412-14T>C	NP_001257376.1:n.412-14T>C
NM_001270447.2:c.412-14T>C	NP_001257376.1:n.412-14T>C
NM_001270448.1:c.115-14T>C	NP_001257377.1:n.115-14T>C
NM_001270448.2:c.115-14T>C	NP_001257377.1:n.115-14T>C
ENST00000322910.9:c.*298-14T>C	ENSP00000325395.5:n.*298-14T>C
ENST00000350303.9:c.277-14T>C	ENSP00000344152.5:n.277-14T>C
ENST00000356839.9:c.343-14T>C	ENSP00000349297.5:n.343-14T>C
ENST00000543245.6:c.412-14T>C	ENSP00000438689.2:n.412-14T>C
ENST00000577191.5:n.420-14T>C
ENST00000577433.5:n.551-14T>C
ENST00000577857.5:n.293+80T>C
ENST00000579286.5:n.524-14T>C
ENST00000579886.2:c.202-35T>C	ENSP00000463246.1:n.202-35T>C
ENST00000580365.1:n.74-14T>C
ENST00000581378.5:c.42-14T>C
ENST00000581562.5:n.390-14T>C
ENST00000582056.5:n.512T>C
ENST00000582166.1:n.310T>C
ENST00000582356.5:n.621T>C
ENST00000583312.5:c.343-14T>C	ENSP00000467920.1:n.343-14T>C
ENST00000584103.5:c.362T>C	ENSP00000465353.1:p.Leu121Pro
XM_006721516.2:c.343-14T>C	XP_006721579.2:n.343-14T>C
XM_006721516.3:c.343-14T>C	XP_006721579.2:n.343-14T>C
XM_011523829.1:c.343-14T>C	XP_011522131.1:n.343-14T>C
XM_011523829.2:c.343-14T>C	XP_011522131.1:n.343-14T>C
XM_011523830.1:c.343-14T>C	XP_011522132.1:n.343-14T>C
XM_011523830.2:c.343-14T>C	XP_011522132.1:n.343-14T>C
XM_024450741.1:c.343-14T>C	XP_024306509.1:n.343-14T>C
XR_934021.1:n.450-14T>C
XR_934021.2:n.402-14T>C
XR_934022.1:n.450-14T>C
XR_934022.2:n.402-14T>C
XR_934023.1:n.450-14T>C
XR_934023.2:n.402-14T>C