Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2091422C>G , CM000678.2:g.2091422C>G	GRCh38
NC_000016.9:g.2141423C>G , CM000678.1:g.2141423C>G	GRCh37
NC_000016.8:g.2081424C>G	NCBI36
NG_008617.1:g.51799G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001009944.3:c.11712+1G>C MANE Select	NP_001009944.3:n.11712+1G>C
ENST00000262304.9:c.11712+1G>C MANE Select	ENSP00000262304.4:n.11712+1G>C
NM_000296.3:c.11709+1G>C	NP_000287.3:n.11709+1G>C
NM_000296.4:c.11709+1G>C	NP_000287.4:n.11709+1G>C
NM_001009944.2:c.11712+1G>C	NP_001009944.2:n.11712+1G>C
ENST00000262304.8:c.11712+1G>C	ENSP00000262304.4:n.11712+1G>C
ENST00000423118.5:c.11709+1G>C	ENSP00000399501.1:n.11709+1G>C
ENST00000487932.5:c.6274+1G>C	ENSP00000457132.1:n.6274+1G>C
ENST00000561668.5:c.373+1G>C
ENST00000564313.1:n.234-248G>C
XM_005255370.2:c.8667+1G>C	XP_005255427.1:n.8667+1G>C
XM_005255370.3:c.8667+1G>C	XP_005255427.1:n.8667+1G>C
XM_011522525.1:c.11790+1G>C	XP_011520827.1:n.11790+1G>C
XM_011522526.1:c.11787+1G>C	XP_011520828.1:n.11787+1G>C
XM_011522527.1:c.11772+1G>C	XP_011520829.1:n.11772+1G>C
XM_011522528.1:c.11766+1G>C	XP_011520830.1:n.11766+1G>C
XM_011522528.3:c.11766+1G>C	XP_011520830.1:n.11766+1G>C
XM_011522529.1:c.11763+1G>C	XP_011520831.1:n.11763+1G>C
XM_011522529.2:c.11763+1G>C	XP_011520831.1:n.11763+1G>C
XM_011522530.1:c.11736+1G>C	XP_011520832.1:n.11736+1G>C
XM_011522531.1:c.11718+1G>C	XP_011520833.1:n.11718+1G>C
XM_011522532.1:c.11664+1G>C	XP_011520834.1:n.11664+1G>C
XM_011522533.1:c.11583+1G>C	XP_011520835.1:n.11583+1G>C
XM_011522534.1:c.11526+1G>C	XP_011520836.1:n.11526+1G>C
XM_011522535.1:c.9612+1G>C	XP_011520837.1:n.9612+1G>C
XM_011522537.1:c.8790+1G>C	XP_011520839.1:n.8790+1G>C
XM_011522537.2:c.8790+1G>C	XP_011520839.1:n.8790+1G>C
XM_024450298.1:c.11832+1G>C	XP_024306066.1:n.11832+1G>C
XM_024450299.1:c.11760+1G>C	XP_024306067.1:n.11760+1G>C
XM_024450300.1:c.11622+1G>C	XP_024306068.1:n.11622+1G>C
XM_024450301.1:c.9708+1G>C	XP_024306069.1:n.9708+1G>C
XR_932867.1:n.11631-248G>C
XR_932869.1:n.11378-248G>C