×
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.47206074C>T , CM000685.2:g.47206074C>T
GRCh38
NC_000023.10:g.47065473C>T , CM000685.1:g.47065473C>T
GRCh37
NC_000023.9:g.46950417C>T
NCBI36
NG_009161.1:g.20275C>T
NG_021353.1:g.6227C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000335972.11:c.1702C>T
MANE Select
ENSP00000338413.6:p.Leu568=
ENST00000335972.10:c.1702C>T
ENSP00000338413.6:p.Leu568=
ENST00000377351.8:c.1702C>T
ENSP00000366568.4:p.Leu568=
ENST00000490869.1:n.465-4C>T
NM_003334.3:c.1702C>T
NP_003325.2:p.Leu568=
NM_153280.2:c.1702C>T
NP_695012.1:p.Leu568=
XM_005272649.1:c.1720C>T
XP_005272706.1:p.Leu574=
XM_005272650.1:c.1702C>T
XP_005272707.1:p.Leu568=
XM_011543953.1:c.1786C>T
XP_011542255.1:p.Leu596=
XM_011543954.1:c.1744C>T
XP_011542256.1:p.Leu582=
XM_011543955.1:c.1720C>T
XP_011542257.1:p.Leu574=
XM_011543956.1:c.1702C>T
XP_011542258.1:p.Leu568=
XR_949047.1:n.216-724G>A
XM_011543954.2:c.1744C>T
XP_011542256.1:p.Leu582=
XM_017029777.1:c.1855C>T
XP_016885266.1:p.Leu619=
XM_017029778.2:c.1786C>T
XP_016885267.1:p.Leu596=
XM_017029779.2:c.1720C>T
XP_016885268.1:p.Leu574=
XM_017029780.1:c.1702C>T
XP_016885269.1:p.Leu568=
XM_017029781.1:c.1702C>T
XP_016885270.1:p.Leu568=
XR_949047.3:n.284-724G>A
NM_003334.4:c.1702C>T
MANE Select
NP_003325.2:p.Leu568=
NM_153280.3:c.1702C>T
NP_695012.1:p.Leu568=