×
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_000006.12:g.73638431A>T , CM000668.2:g.73638431A>T
GRCh38
NC_000006.11:g.74348154A>T , CM000668.1:g.74348154A>T
GRCh37
NC_000006.10:g.74404875A>T
NCBI36
NG_008272.1:g.20584T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355773.6:c.594T>A
MANE Select
ENSP00000348019.5:p.Leu198=
ENST00000355773.5:c.594T>A
ENSP00000348019.5:p.Leu198=
ENST00000481996.1:n.360T>A
NM_012434.4:c.594T>A
NP_036566.1:p.Leu198=
XM_005248710.2:c.543T>A
XP_005248767.1:p.Leu181=
XM_005248711.1:c.396T>A
XP_005248768.1:p.Leu132=
XM_011535750.1:c.594T>A
XP_011534052.1:p.Leu198=
XM_011535751.1:c.594T>A
XP_011534053.1:p.Leu198=
NM_012434.5:c.594T>A
MANE Select
NP_036566.1:p.Leu198=
NM_001382629.1:c.363T>A
NP_001369558.1:p.Leu121=
NM_001382630.1:c.594T>A
NP_001369559.1:p.Leu198=
NM_001382631.1:c.615T>A
NP_001369560.1:p.Leu205=
NM_001382632.1:c.594T>A
NP_001369561.1:p.Leu198=
NM_001382633.1:c.594T>A
NP_001369562.1:p.Leu198=
NM_001382634.1:c.594T>A
NP_001369563.1:p.Leu198=
NM_001382635.1:c.594T>A
NP_001369564.1:p.Leu198=
NM_001382636.1:c.363T>A
NP_001369565.1:p.Leu121=