×
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.173909733C>G , CM000663.2:g.173909733C>G
GRCh38
NC_000001.10:g.173878871C>G , CM000663.1:g.173878871C>G
GRCh37
NC_000001.9:g.172145494C>G
NCBI36
NG_012462.1:g.12646G>C , LRG_577:g.12646G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.972G>C
MANE Select
ENSP00000356671.3:p.Leu324=
ENST00000367698.3:c.972G>C
ENSP00000356671.3:p.Leu324=
ENST00000487183.1:n.623G>C
ENST00000617423.4:c.559+2131G>C
ENSP00000478688.1:n.559+2131G>C
NM_000488.3:c.972G>C , LRG_577t1:c.972G>C
NP_000479.1:p.Leu324=
XM_005245198.2:c.828G>C
XP_005245255.1:p.Leu276=
NM_001365052.1:c.828G>C
NP_001351981.1:p.Leu276=
NM_000488.4:c.972G>C
MANE Select
NP_000479.1:p.Leu324=
NM_001365052.2:c.828G>C
NP_001351981.1:p.Leu276=
NM_001386302.1:c.1095G>C
NP_001373231.1:p.Leu365=
NM_001386303.1:c.1053G>C
NP_001373232.1:p.Leu351=
NM_001386304.1:c.951G>C
NP_001373233.1:p.Leu317=
NM_001386305.1:c.915G>C
NP_001373234.1:p.Leu305=
NM_001386306.1:c.756G>C
NP_001373235.1:p.Leu252=