×
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_000007.14:g.2539880C= , CM000669.2:g.2539880C=
GRCh38
NC_000007.13:g.2579514C= , CM000669.1:g.2579514C=
GRCh37
NC_000007.12:g.2546040C=
NCBI36
NG_032167.1:g.20879G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000340611.9:c.1404G=
MANE Select
ENSP00000339637.4:p.Lys468=
ENST00000340611.8:c.1404G=
ENSP00000339637.4:p.Lys468=
ENST00000467558.5:n.2776G=
ENST00000469750.5:n.3976G=
ENST00000473879.1:n.120G=
ENST00000493232.5:n.4140G=
NM_152743.3:c.1404G=
NP_689956.2:p.Lys468=
XM_005249643.3:c.1404G=
XP_005249700.1:p.Lys468=
XM_011515177.1:c.1488G=
XP_011513479.1:p.Lys496=
XM_011515178.1:c.1488G=
XP_011513480.1:p.Lys496=
XM_011515179.1:c.1485G=
XP_011513481.1:p.Lys495=
XM_011515180.1:c.1458G=
XP_011513482.1:p.Lys486=
XM_011515181.1:c.1488G=
XP_011513483.1:p.Lys496=
XM_011515182.1:c.1488G=
XP_011513484.1:p.Lys496=
XM_011515183.1:c.963G=
XP_011513485.1:p.Lys321=
XM_011515184.1:c.963G=
XP_011513486.1:p.Lys321=
XM_011515185.1:c.1404G=
XP_011513487.1:p.Lys468=
XM_011515186.1:c.1488G=
XP_011513488.1:p.Lys496=
XM_011515187.1:c.60G=
XP_011513489.1:p.Lys20=
NM_001350626.1:c.1404G=
NP_001337555.1:p.Lys468=
NM_001350627.1:c.879G=
NP_001337556.1:p.Lys293=
NR_146879.1:n.1821G=
XM_011515177.2:c.1488G=
XP_011513479.1:p.Lys496=
XM_011515179.2:c.1485G=
XP_011513481.1:p.Lys495=
XM_011515181.2:c.1488G=
XP_011513483.1:p.Lys496=
XM_011515182.2:c.1488G=
XP_011513484.1:p.Lys496=
XM_011515184.3:c.963G=
XP_011513486.1:p.Lys321=
XM_011515186.2:c.1488G=
XP_011513488.1:p.Lys496=
XM_017011833.1:c.1401G=
XP_016867322.1:p.Lys467=
XM_017011834.1:c.1401G=
XP_016867323.1:p.Lys467=
XM_017011836.2:c.1404G=
XP_016867325.1:p.Lys468=
XM_024446682.1:c.60G=
XP_024302450.1:p.Lys20=
NM_152743.4:c.1404G=
MANE Select
NP_689956.2:p.Lys468=
NM_001350626.2:c.1404G=
NP_001337555.1:p.Lys468=
NM_001350627.2:c.879G=
NP_001337556.1:p.Lys293=
NR_146879.2:n.1587G=