×
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_000023.11:g.85956275G>T , CM000685.2:g.85956275G>T
GRCh38
NC_000023.10:g.85211280G>T , CM000685.1:g.85211280G>T
GRCh37
NC_000023.9:g.85097936G>T
NCBI36
NG_009874.2:g.96288C>A , LRG_699:g.96288C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357749.7:c.1044C>A
MANE Select
ENSP00000350386.2:p.Ala348=
ENST00000357749.6:c.1044C>A
ENSP00000350386.2:p.Ala348=
ENST00000467744.2:n.126+71216C>A
NM_000390.2:c.1044C>A , LRG_699t1:c.1044C>A
NP_000381.1:p.Ala348=
XM_006724615.2:c.981C>A
XP_006724678.1:p.Ala327=
XM_011530839.1:c.600C>A
XP_011529141.1:p.Ala200=
NM_000390.3:c.1044C>A
NP_000381.1:p.Ala348=
NM_001320959.1:c.600C>A
NP_001307888.1:p.Ala200=
NM_001362517.1:c.600C>A
NP_001349446.1:p.Ala200=
NM_001362518.1:c.600C>A
NP_001349447.1:p.Ala200=
NM_001362519.1:c.600C>A
NP_001349448.1:p.Ala200=
XM_017029242.2:c.1044C>A
XP_016884731.1:p.Ala348=
XM_017029246.1:c.600C>A
XP_016884735.1:p.Ala200=
XM_024452331.1:c.600C>A
XP_024308099.1:p.Ala200=
NM_000390.4:c.1044C>A
MANE Select
NP_000381.1:p.Ala348=
NM_001362518.2:c.600C>A
NP_001349447.1:p.Ala200=