×
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_000023.11:g.80025699G>T , CM000685.2:g.80025699G>T
GRCh38
NC_000023.10:g.79281198G>T , CM000685.1:g.79281198G>T
GRCh37
NC_000023.9:g.79167854G>T
NCBI36
NG_008998.1:g.15944G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373296.8:c.555G>T
MANE Select
ENSP00000362393.3:p.Ser185=
ENST00000373294.8:c.555G>T
ENSP00000362390.5:p.Ser185=
ENST00000373296.7:c.555G>T
ENSP00000362393.3:p.Ser185=
ENST00000626498.2:c.*167G>T
ENSP00000487527.1:n.*167G>T
ENST00000626877.1:n.434G>T
NM_001109878.1:c.555G>T
NP_001103348.1:p.Ser185=
NM_001109879.1:c.195G>T
NP_001103349.1:p.Ser65=
NM_001303475.1:c.195G>T
NP_001290404.1:p.Ser65=
NM_016954.2:c.555G>T
NP_058650.1:p.Ser185=
XM_005262136.2:c.558G>T
XP_005262193.1:p.Ser186=
XM_006724657.2:c.558G>T
XP_006724720.1:p.Ser186=
XM_011530972.1:c.195G>T
XP_011529274.1:p.Ser65=
NM_001109878.2:c.555G>T
MANE Select
NP_001103348.1:p.Ser185=
NM_001109879.2:c.195G>T
NP_001103349.1:p.Ser65=