×
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_000012.12:g.1780566C>A , CM000674.2:g.1780566C>A
GRCh38
NC_000012.11:g.1889732C>A , CM000674.1:g.1889732C>A
GRCh37
NC_000012.10:g.1759993C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357103.5:c.579C>A
MANE Select
ENSP00000349616.4:p.Leu193=
ENST00000357103.4:c.579C>A
ENSP00000349616.4:p.Leu193=
ENST00000537190.1:n.419C>A
NM_024551.2:c.579C>A
NP_078827.2:p.Leu193=
XM_005253789.1:c.579C>A
XP_005253846.1:p.Leu193=
XM_006719018.1:c.579C>A
XP_006719081.1:p.Leu193=
XM_011521024.1:c.579C>A
XP_011519326.1:p.Leu193=
XM_011521025.1:c.463+2541C>A
XP_011519327.1:n.463+2541C>A
XM_005253789.2:c.579C>A
XP_005253846.1:p.Leu193=
XM_006719018.2:c.579C>A
XP_006719081.1:p.Leu193=
XM_011521024.2:c.579C>A
XP_011519326.1:p.Leu193=
NM_024551.3:c.579C>A
MANE Select
NP_078827.2:p.Leu193=
NM_001375363.1:c.579C>A
NP_001362292.1:p.Leu193=
NM_001375364.1:c.579C>A
NP_001362293.1:p.Leu193=
NM_001375365.1:c.579C>A
NP_001362294.1:p.Leu193=