×
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_000001.11:g.173904005G>A , CM000663.2:g.173904005G>A
GRCh38
NC_000001.10:g.173873143G>A , CM000663.1:g.173873143G>A
GRCh37
NC_000001.9:g.172139766G>A
NCBI36
NG_012462.1:g.18374C>T , LRG_577:g.18374C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1279C>T
MANE Select
ENSP00000356671.3:p.Leu427=
ENST00000367698.3:c.1279C>T
ENSP00000356671.3:p.Leu427=
ENST00000617423.4:c.664C>T
ENSP00000478688.1:p.Leu222=
NM_000488.3:c.1279C>T , LRG_577t1:c.1279C>T
NP_000479.1:p.Leu427=
XM_005245198.2:c.1135C>T
XP_005245255.1:p.Leu379=
NM_001365052.1:c.1135C>T
NP_001351981.1:p.Leu379=
NM_000488.4:c.1279C>T
MANE Select
NP_000479.1:p.Leu427=
NM_001365052.2:c.1135C>T
NP_001351981.1:p.Leu379=
NM_001386302.1:c.1402C>T
NP_001373231.1:p.Leu468=
NM_001386303.1:c.1360C>T
NP_001373232.1:p.Leu454=
NM_001386304.1:c.1258C>T
NP_001373233.1:p.Leu420=
NM_001386305.1:c.1222C>T
NP_001373234.1:p.Leu408=
NM_001386306.1:c.1063C>T
NP_001373235.1:p.Leu355=