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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.80167704T>C , CM000668.2:g.80167704T>C
GRCh38
NC_000006.11:g.80877421T>C , CM000668.1:g.80877421T>C
GRCh37
NC_000006.10:g.80934140T>C
NCBI36
NG_009775.1:g.66078T>C
NG_009775.2:g.66078T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000320393.9:c.370T>C
MANE Select
ENSP00000318351.5:p.Leu124=
ENST00000320393.8:c.370T>C
ENSP00000318351.5:p.Leu124=
ENST00000356489.9:c.370T>C
ENSP00000348880.5:p.Leu124=
ENST00000369760.8:c.370T>C
ENSP00000358775.4:p.Leu124=
NM_000056.3:c.370T>C
NP_000047.1:p.Leu124=
NM_183050.2:c.370T>C
NP_898871.1:p.Leu124=
XM_005248756.3:c.370T>C
XP_005248813.1:p.Leu124=
XM_006715542.2:c.160T>C
XP_006715605.1:p.Leu54=
XM_011536023.1:c.370T>C
XP_011534325.1:p.Leu124=
XM_011536024.1:c.370T>C
XP_011534326.1:p.Leu124=
XM_011536025.1:c.370T>C
XP_011534327.1:p.Leu124=
XM_011536026.1:c.160T>C
XP_011534328.1:p.Leu54=
XM_011536027.1:c.370T>C
XP_011534329.1:p.Leu124=
NM_000056.4:c.370T>C
NP_000047.1:p.Leu124=
NM_001318975.1:c.160T>C
NP_001305904.1:p.Leu54=
NM_183050.3:c.370T>C
NP_898871.1:p.Leu124=
NR_134945.1:n.454T>C
XM_005248756.5:c.370T>C
XP_005248813.1:p.Leu124=
XM_011536023.3:c.370T>C
XP_011534325.1:p.Leu124=
XM_011536024.3:c.370T>C
XP_011534326.1:p.Leu124=
XM_011536025.3:c.370T>C
XP_011534327.1:p.Leu124=
XR_001743546.2:n.400T>C
XR_001743547.2:n.400T>C
XR_001743548.2:n.400T>C
XR_001743549.2:n.400T>C
XR_002956292.1:n.400T>C
NM_183050.4:c.370T>C
MANE Select
NP_898871.1:p.Leu124=
NR_134945.2:n.393T>C
NM_000056.5:c.370T>C
NP_000047.1:p.Leu124=