Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069641A>G , CM000681.2:g.18069641A>G	GRCh38
NC_000019.9:g.18180451A>G , CM000681.1:g.18180451A>G	GRCh37
NC_000019.8:g.18041451A>G	NCBI36
NG_007366.2:g.34309T>C , LRG_72:g.34309T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005535.3:c.1094T>C MANE Select	NP_005526.1:p.Met365Thr
ENST00000593993.7:c.1094T>C MANE Select	ENSP00000472165.2:p.Met365Thr
NM_001290023.1:c.1094T>C	NP_001276952.1:p.Met365Thr
NM_001290023.2:c.1094T>C	NP_001276952.1:p.Met365Thr
NM_001290024.1:c.1214T>C	NP_001276953.1:p.Met405Thr
NM_005535.2:c.1094T>C	NP_005526.1:p.Met365Thr
ENST00000593993.6:c.1094T>C	ENSP00000472165.2:p.Met365Thr
ENST00000600835.6:c.1094T>C	ENSP00000470788.1:p.Met365Thr
XM_006722741.2:c.1214T>C	XP_006722804.2:p.Met405Thr
XM_006722741.3:c.1214T>C	XP_006722804.2:p.Met405Thr
XM_011527966.1:c.1247T>C	XP_011526268.1:p.Met416Thr
XM_011527966.2:c.1247T>C	XP_011526268.1:p.Met416Thr
XM_011527967.1:c.1235T>C	XP_011526269.1:p.Met412Thr
XM_011527967.2:c.1235T>C	XP_011526269.1:p.Met412Thr
XM_011527968.1:c.1226T>C	XP_011526270.1:p.Met409Thr
XM_011527968.3:c.1226T>C	XP_011526270.1:p.Met409Thr
XM_011527969.1:c.1214T>C	XP_011526271.1:p.Met405Thr
XM_011527969.2:c.1214T>C	XP_011526271.1:p.Met405Thr
XM_011527970.1:c.1247T>C	XP_011526272.1:p.Met416Thr
XM_011527970.2:c.1247T>C	XP_011526272.1:p.Met416Thr
XM_011527971.1:c.1247T>C	XP_011526273.1:p.Met416Thr
XM_011527971.3:c.1247T>C	XP_011526273.1:p.Met416Thr
XM_011527972.1:c.1247T>C	XP_011526274.1:p.Met416Thr
XM_011527972.3:c.1247T>C	XP_011526274.1:p.Met416Thr
XM_011527973.1:c.1127T>C	XP_011526275.1:p.Met376Thr
XM_011527973.2:c.1127T>C	XP_011526275.1:p.Met376Thr
XM_011527974.1:c.1115T>C	XP_011526276.1:p.Met372Thr
XM_011527974.2:c.1115T>C	XP_011526276.1:p.Met372Thr
XM_011527975.1:c.1214T>C	XP_011526277.1:p.Met405Thr
XM_011527975.2:c.1214T>C	XP_011526277.1:p.Met405Thr
XM_011527976.1:c.1247T>C	XP_011526278.1:p.Met416Thr
XM_011527976.2:c.1247T>C	XP_011526278.1:p.Met416Thr
XM_017026762.1:c.512T>C	XP_016882251.1:p.Met171Thr