Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80202245C>G , CM000666.2:g.80202245C>G	GRCh38
NC_000004.11:g.81123399C>G , CM000666.1:g.81123399C>G	GRCh37
NC_000004.10:g.81342423C>G	NCBI36
NG_046725.1:g.21976C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415738.3:c.783C>G MANE Select	ENSP00000406998.2:p.Phe261Leu
ENST00000339711.8:c.783C>G	ENSP00000339764.4:p.Phe261Leu
ENST00000415738.2:c.783C>G	ENSP00000406998.2:p.Phe261Leu
ENST00000504452.5:c.783C>G	ENSP00000423985.1:p.Phe261Leu
ENST00000515013.5:c.783C>G	ENSP00000425149.1:p.Phe261Leu
NM_001099403.1:c.783C>G	NP_001092873.1:p.Phe261Leu
NM_020226.3:c.783C>G	NP_064611.3:p.Phe261Leu
XM_005263144.2:c.786C>G	XP_005263201.1:p.Phe262Leu
XM_005263145.2:c.786C>G	XP_005263202.1:p.Phe262Leu
XM_005263146.3:c.783C>G	XP_005263203.1:p.Phe261Leu
XM_011532133.1:c.1626C>G	XP_011530435.1:p.Phe542Leu
XM_011532134.1:c.1623C>G	XP_011530436.1:p.Phe541Leu
XM_011532135.1:c.1485C>G	XP_011530437.1:p.Phe495Leu
XM_011532136.1:c.1338C>G	XP_011530438.1:p.Phe446Leu
XM_011532137.1:c.1338C>G	XP_011530439.1:p.Phe446Leu
XM_011532138.1:c.1338C>G	XP_011530440.1:p.Phe446Leu
XM_011532139.1:c.1338C>G	XP_011530441.1:p.Phe446Leu
XM_011532140.1:c.1338C>G	XP_011530442.1:p.Phe446Leu
XM_011532141.1:c.1200C>G	XP_011530443.1:p.Phe400Leu
XM_011532142.1:c.1179C>G	XP_011530444.1:p.Phe393Leu
XM_005263146.4:c.783C>G	XP_005263203.1:p.Phe261Leu
XM_011532133.2:c.1626C>G	XP_011530435.1:p.Phe542Leu
XM_011532135.2:c.1485C>G	XP_011530437.1:p.Phe495Leu
XM_011532140.2:c.1338C>G	XP_011530442.1:p.Phe446Leu
XM_011532141.3:c.1200C>G	XP_011530443.1:p.Phe400Leu
XM_017008468.1:c.1335C>G	XP_016863957.1:p.Phe445Leu
XM_017008469.1:c.1422C>G	XP_016863958.1:p.Phe474Leu
XM_017008470.1:c.1338C>G	XP_016863959.1:p.Phe446Leu
NM_001099403.2:c.783C>G MANE Select	NP_001092873.1:p.Phe261Leu
NM_020226.4:c.783C>G	NP_064611.3:p.Phe261Leu

Linked Data

Genomic Alleles

Transcript Alleles