×
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.23814182A= , CM000666.2:g.23814182A=
GRCh38
NC_000004.11:g.23815805A= , CM000666.1:g.23815805A=
GRCh37
NC_000004.10:g.23424903A=
NCBI36
NG_028250.1:g.80896T=
NG_028250.2:g.663794T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264867.7:c.1301T=
MANE Select
ENSP00000264867.2:p.Leu434=
ENST00000264867.6:c.1301T=
ENSP00000264867.2:p.Leu434=
ENST00000506055.5:c.*516T=
ENSP00000423075.1:n.*516T=
ENST00000509702.5:n.1341T=
ENST00000613098.4:c.920T=
ENSP00000481498.1:p.Leu307=
NM_013261.3:c.1301T=
NP_037393.1:p.Leu434=
XM_005248130.2:c.1316T=
XP_005248187.1:p.Leu439=
XM_005248131.3:c.1313T=
XP_005248188.1:p.Leu438=
XM_005248132.1:c.1292T=
XP_005248189.1:p.Leu431=
XM_005248134.3:c.1316T=
XP_005248191.1:p.Leu439=
XM_011513764.1:c.1301T=
XP_011512066.1:p.Leu434=
XM_011513765.1:c.1265T=
XP_011512067.1:p.Leu422=
XM_011513766.1:c.1196T=
XP_011512068.1:p.Leu399=
XM_011513767.1:c.1196T=
XP_011512069.1:p.Leu399=
XM_011513768.1:c.1196T=
XP_011512070.1:p.Leu399=
XM_011513769.1:c.1316T=
XP_011512071.1:p.Leu439=
XM_011513770.1:c.920T=
XP_011512072.1:p.Leu307=
XM_011513771.1:c.920T=
XP_011512073.1:p.Leu307=
NM_001330751.1:c.1316T=
NP_001317680.1:p.Leu439=
NM_001330752.1:c.1265T=
NP_001317681.1:p.Leu422=
NM_001330753.1:c.920T=
NP_001317682.1:p.Leu307=
NM_001354825.1:c.1316T=
NP_001341754.1:p.Leu439=
NM_001354826.1:c.920T=
NP_001341755.1:p.Leu307=
NM_001354827.1:c.1316T=
NP_001341756.1:p.Leu439=
NM_013261.4:c.1301T=
NP_037393.1:p.Leu434=
NR_148981.1:n.1828T=
NR_148982.1:n.1901T=
NR_148983.1:n.2054T=
NR_148984.1:n.1452T=
NR_148985.1:n.1966T=
NR_148986.1:n.1971T=
NR_148987.1:n.2053T=
XM_005248131.5:c.1313T=
XP_005248188.1:p.Leu438=
XM_005248134.4:c.1316T=
XP_005248191.1:p.Leu439=
XM_011513769.2:c.1316T=
XP_011512071.1:p.Leu439=
XM_024453878.1:c.1316T=
XP_024309646.1:p.Leu439=
NM_013261.5:c.1301T=
MANE Select
NP_037393.1:p.Leu434=
NM_001330751.2:c.1316T=
NP_001317680.1:p.Leu439=
NM_001330752.2:c.1265T=
NP_001317681.1:p.Leu422=
NM_001354825.2:c.1316T=
NP_001341754.1:p.Leu439=
NM_001354826.2:c.920T=
NP_001341755.1:p.Leu307=
NM_001354827.2:c.1316T=
NP_001341756.1:p.Leu439=
NR_148981.2:n.1904T=
NR_148982.2:n.1977T=
NR_148983.2:n.2130T=
NR_148984.2:n.1422T=
NR_148985.2:n.2042T=
NR_148986.2:n.2047T=
NR_148987.2:n.2129T=
NM_001330753.2:c.920T=
NP_001317682.1:p.Leu307=