×
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_000008.11:g.43192409T>A , CM000670.2:g.43192409T>A
GRCh38
NC_000008.10:g.43047552T>A , CM000670.1:g.43047552T>A
GRCh37
NC_000008.9:g.43166709T>A
NCBI36
NG_009552.1:g.56961T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000379644.9:c.1356T>A
MANE Select
ENSP00000368965.4:p.Leu452=
ENST00000379644.8:c.1356T>A
ENSP00000368965.4:p.Leu452=
ENST00000520678.1:n.289T>A
ENST00000521576.1:c.507T>A
ENSP00000429029.1:p.Leu169=
ENST00000524016.5:c.460T>A
NM_152419.2:c.1356T>A
NP_689632.2:p.Leu452=
XM_005273409.1:c.1356T>A
XP_005273466.1:p.Leu452=
XM_005273410.1:c.1356T>A
XP_005273467.1:p.Leu452=
XM_005273411.1:c.1164T>A
XP_005273468.1:p.Leu388=
XM_005273412.2:c.1356T>A
XP_005273469.1:p.Leu452=
NM_001363227.1:c.1356T>A
NP_001350156.1:p.Leu452=
NM_001363228.1:c.1164T>A
NP_001350157.1:p.Leu388=
NM_001363229.1:c.492T>A
NP_001350158.1:p.Leu164=
XM_005273412.4:c.1356T>A
XP_005273469.1:p.Leu452=
NM_152419.3:c.1356T>A
MANE Select
NP_689632.2:p.Leu452=
NM_001363227.2:c.1356T>A
NP_001350156.1:p.Leu452=
NM_001363228.2:c.1164T>A
NP_001350157.1:p.Leu388=
NM_001363229.2:c.492T>A
NP_001350158.1:p.Leu164=