×
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_000009.12:g.91220949G>T , CM000671.2:g.91220949G>T
GRCh38
NC_000009.11:g.93983231G>T , CM000671.1:g.93983231G>T
GRCh37
NC_000009.10:g.93023052G>T
NCBI36
NG_008017.1:g.145976C>A , LRG_449:g.145976C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375731.9:c.699C>A
MANE Select
ENSP00000364883.5:p.Ala233=
ENST00000303617.5:c.612C>A
ENSP00000307334.5:p.Ala204=
ENST00000375731.8:c.699C>A
ENSP00000364883.4:p.Ala233=
NM_001306190.1:c.612C>A
NP_001293119.1:p.Ala204=
NM_001698.2:c.699C>A , LRG_449t1:c.699C>A
NP_001689.1:p.Ala233=
XM_005252066.2:c.729C>A
XP_005252123.1:p.Ala243=
XM_005252067.3:c.729C>A
XP_005252124.1:p.Ala243=
XM_005252069.3:c.729C>A
XP_005252126.1:p.Ala243=
XM_005252073.2:c.237C>A
XP_005252130.1:p.Ala79=
XM_006717150.2:c.642C>A
XP_006717213.1:p.Ala214=
XM_011518801.1:c.375C>A
XP_011517103.1:p.Ala125=
XM_011518802.1:c.372C>A
XP_011517104.1:p.Ala124=
NM_001351431.1:c.372C>A
NP_001338360.1:p.Ala124=
NM_001351432.1:c.372C>A
NP_001338361.1:p.Ala124=
NM_001351433.1:c.372C>A
NP_001338362.1:p.Ala124=
XM_005252066.3:c.729C>A
XP_005252123.1:p.Ala243=
XM_005252067.4:c.729C>A
XP_005252124.1:p.Ala243=
XM_005252069.4:c.729C>A
XP_005252126.1:p.Ala243=
XM_006717150.3:c.642C>A
XP_006717213.1:p.Ala214=
XM_017014849.1:c.699C>A
XP_016870338.1:p.Ala233=
XR_001746328.2:n.924C>A
XR_001746329.2:n.876C>A
NM_001698.3:c.699C>A
MANE Select
NP_001689.1:p.Ala233=
NM_001306190.2:c.612C>A
NP_001293119.1:p.Ala204=
NM_001351431.2:c.372C>A
NP_001338360.1:p.Ala124=
NM_001351432.2:c.372C>A
NP_001338361.1:p.Ala124=
NM_001351433.2:c.372C>A
NP_001338362.1:p.Ala124=