×
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.85964018C>G , CM000685.2:g.85964018C>G
GRCh38
NC_000023.10:g.85219023C>G , CM000685.1:g.85219023C>G
GRCh37
NC_000023.9:g.85105679C>G
NCBI36
NG_009874.2:g.88545G>C , LRG_699:g.88545G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357749.7:c.349G>C
MANE Select
ENSP00000350386.2:p.Ala117Pro
ENST00000357749.6:c.349G>C
ENSP00000350386.2:p.Ala117Pro
ENST00000467744.2:n.126+63473G>C
NM_000390.2:c.349G>C , LRG_699t1:c.349G>C
NP_000381.1:p.Ala117Pro
XM_006724615.2:c.286G>C
XP_006724678.1:p.Ala96Pro
XM_011530839.1:c.-96G>C
XP_011529141.1:n.-96G>C
NM_000390.3:c.349G>C
NP_000381.1:p.Ala117Pro
NM_001320959.1:c.-96G>C
NP_001307888.1:n.-96G>C
NM_001362517.1:c.-96G>C
NP_001349446.1:n.-96G>C
NM_001362518.1:c.-96G>C
NP_001349447.1:n.-96G>C
NM_001362519.1:c.-96G>C
NP_001349448.1:n.-96G>C
XM_017029242.2:c.349G>C
XP_016884731.1:p.Ala117Pro
XM_017029246.1:c.-96G>C
XP_016884735.1:n.-96G>C
XM_024452331.1:c.-96G>C
XP_024308099.1:n.-96G>C
NM_000390.4:c.349G>C
MANE Select
NP_000381.1:p.Ala117Pro
NM_001362518.2:c.-96G>C
NP_001349447.1:n.-96G>C