×
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_000003.12:g.179198832C>G , CM000665.2:g.179198832C>G
GRCh38
NC_000003.11:g.178916620C>G , CM000665.1:g.178916620C>G
GRCh37
NC_000003.10:g.180399314C>G
NCBI36
NG_012113.2:g.55310C>G , LRG_310:g.55310C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000263967.4:c.7C>G
MANE Select
ENSP00000263967.3:p.Pro3Ala
ENST00000643187.1:c.7C>G
ENSP00000493507.1:p.Pro3Ala
ENST00000675467.1:n.2814C>G
ENST00000675786.1:c.7C>G
ENSP00000502323.1:p.Pro3Ala
ENST00000263967.3:c.7C>G
ENSP00000263967.3:p.Pro3Ala
ENST00000468036.1:c.7C>G
ENSP00000417479.1:p.Pro3Ala
ENST00000477735.1:c.7C>G
ENSP00000418145.1:p.Pro3Ala
NM_006218.2:c.7C>G , LRG_310t1:c.7C>G
NP_006209.2:p.Pro3Ala
XM_006713658.2:c.7C>G
XP_006713721.1:p.Pro3Ala
XM_011512894.1:c.7C>G
XP_011511196.1:p.Pro3Ala
NM_006218.3:c.7C>G
NP_006209.2:p.Pro3Ala
XM_006713658.4:c.7C>G
XP_006713721.1:p.Pro3Ala
XM_011512894.2:c.7C>G
XP_011511196.1:p.Pro3Ala
NM_006218.4:c.7C>G
MANE Select
NP_006209.2:p.Pro3Ala