×
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_000017.11:g.8121775C>T , CM000679.2:g.8121775C>T
GRCh38
NC_000017.10:g.8025093C>T , CM000679.1:g.8025093C>T
GRCh37
NC_000017.9:g.7965818C>T
NCBI36
NG_015807.1:g.2142G>A
NG_015816.1:g.7318G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000541682.7:c.489G>A
MANE Select
ENSP00000446205.2:p.Leu163=
ENST00000317814.8:c.474G>A
ENSP00000314774.4:p.Leu158=
ENST00000541682.6:c.489G>A
ENSP00000446205.2:p.Leu163=
NM_001165967.1:c.489G>A
NP_001159439.1:p.Leu163=
NM_032580.3:c.474G>A
NP_115969.2:p.Leu158=
XM_011524038.1:c.594G>A
XP_011522340.1:p.Leu198=
XM_011524039.1:c.585G>A
XP_011522341.1:p.Leu195=
XM_011524040.1:c.585G>A
XP_011522342.1:p.Leu195=
XM_011524041.1:c.576G>A
XP_011522343.1:p.Leu192=
XM_011524042.1:c.447G>A
XP_011522344.1:p.Leu149=
XR_934203.1:n.69+1961C>T
XM_017025232.1:c.594G>A
XP_016880721.1:p.Leu198=
XM_024451007.1:c.594G>A
XP_024306775.1:p.Leu198=
NM_001165967.2:c.489G>A
MANE Select
NP_001159439.1:p.Leu163=
NM_032580.4:c.474G>A
NP_115969.2:p.Leu158=