×
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_000019.10:g.12896055G= , CM000681.2:g.12896055G=
GRCh38
NC_000019.9:g.13006869G= , CM000681.1:g.13006869G=
GRCh37
NC_000019.8:g.12867869G=
NCBI36
NG_009292.1:g.9896G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000222214.10:c.569G=
MANE Select
ENSP00000222214.4:p.Ser190=
ENST00000222214.9:c.569G=
ENSP00000222214.4:p.Ser190=
ENST00000421816.6:n.547G=
ENST00000585420.5:n.934G=
ENST00000590530.5:c.*9G=
ENSP00000468452.1:n.*9G=
ENST00000591043.1:n.605G=
ENST00000591470.5:c.569G=
ENSP00000466845.1:p.Ser190=
NM_000159.3:c.569G=
NP_000150.1:p.Ser190=
NM_013976.3:c.569G=
NP_039663.1:p.Ser190=
NR_102316.1:n.732G=
NR_102317.1:n.985G=
XM_006722721.2:c.569G=
XP_006722784.1:p.Ser190=
XM_011527899.1:c.569G=
XP_011526201.1:p.Ser190=
XM_011527900.1:c.569G=
XP_011526202.1:p.Ser190=
XM_011527899.2:c.569G=
XP_011526201.1:p.Ser190=
XM_011527900.2:c.569G=
XP_011526202.1:p.Ser190=
XM_017026580.1:c.569G=
XP_016882069.1:p.Ser190=
NM_000159.4:c.569G=
MANE Select
NP_000150.1:p.Ser190=
NM_013976.4:c.569G=
NP_039663.1:p.Ser190=
NM_013976.5:c.569G=
NP_039663.1:p.Ser190=