×
SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.23813955G>A , CM000666.2:g.23813955G>A
GRCh38
NC_000004.11:g.23815578G>A , CM000666.1:g.23815578G>A
GRCh37
NC_000004.10:g.23424676G>A
NCBI36
NG_028250.1:g.81123C>T
NG_028250.2:g.664021C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264867.7:c.1528C>T
MANE Select
ENSP00000264867.2:p.Leu510=
ENST00000264867.6:c.1528C>T
ENSP00000264867.2:p.Leu510=
ENST00000506055.5:c.*743C>T
ENSP00000423075.1:n.*743C>T
ENST00000509702.5:n.1568C>T
ENST00000613098.4:c.1147C>T
ENSP00000481498.1:p.Leu383=
NM_013261.3:c.1528C>T
NP_037393.1:p.Leu510=
XM_005248130.2:c.1543C>T
XP_005248187.1:p.Leu515=
XM_005248131.3:c.1540C>T
XP_005248188.1:p.Leu514=
XM_005248132.1:c.1519C>T
XP_005248189.1:p.Leu507=
XM_005248134.3:c.1543C>T
XP_005248191.1:p.Leu515=
XM_011513764.1:c.1528C>T
XP_011512066.1:p.Leu510=
XM_011513765.1:c.1492C>T
XP_011512067.1:p.Leu498=
XM_011513766.1:c.1423C>T
XP_011512068.1:p.Leu475=
XM_011513767.1:c.1423C>T
XP_011512069.1:p.Leu475=
XM_011513768.1:c.1423C>T
XP_011512070.1:p.Leu475=
XM_011513769.1:c.1543C>T
XP_011512071.1:p.Leu515=
XM_011513770.1:c.1147C>T
XP_011512072.1:p.Leu383=
XM_011513771.1:c.1147C>T
XP_011512073.1:p.Leu383=
NM_001330751.1:c.1543C>T
NP_001317680.1:p.Leu515=
NM_001330752.1:c.1492C>T
NP_001317681.1:p.Leu498=
NM_001330753.1:c.1147C>T
NP_001317682.1:p.Leu383=
NM_001354825.1:c.1543C>T
NP_001341754.1:p.Leu515=
NM_001354826.1:c.1147C>T
NP_001341755.1:p.Leu383=
NM_001354827.1:c.1543C>T
NP_001341756.1:p.Leu515=
NM_013261.4:c.1528C>T
NP_037393.1:p.Leu510=
NR_148981.1:n.2055C>T
NR_148982.1:n.2128C>T
NR_148983.1:n.2281C>T
NR_148984.1:n.1679C>T
NR_148985.1:n.2193C>T
NR_148986.1:n.2198C>T
NR_148987.1:n.2280C>T
XM_005248131.5:c.1540C>T
XP_005248188.1:p.Leu514=
XM_005248134.4:c.1543C>T
XP_005248191.1:p.Leu515=
XM_011513769.2:c.1543C>T
XP_011512071.1:p.Leu515=
XM_024453878.1:c.1543C>T
XP_024309646.1:p.Leu515=
NM_013261.5:c.1528C>T
MANE Select
NP_037393.1:p.Leu510=
NM_001330751.2:c.1543C>T
NP_001317680.1:p.Leu515=
NM_001330752.2:c.1492C>T
NP_001317681.1:p.Leu498=
NM_001354825.2:c.1543C>T
NP_001341754.1:p.Leu515=
NM_001354826.2:c.1147C>T
NP_001341755.1:p.Leu383=
NM_001354827.2:c.1543C>T
NP_001341756.1:p.Leu515=
NR_148981.2:n.2131C>T
NR_148982.2:n.2204C>T
NR_148983.2:n.2357C>T
NR_148984.2:n.1649C>T
NR_148985.2:n.2269C>T
NR_148986.2:n.2274C>T
NR_148987.2:n.2356C>T
NM_001330753.2:c.1147C>T
NP_001317682.1:p.Leu383=