×
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_000015.10:g.100573751G= , CM000677.2:g.100573751G=
GRCh38
NC_000015.9:g.101113956G= , CM000677.1:g.101113956G=
GRCh37
NC_000015.8:g.98931479G=
NCBI36
NG_034076.1:g.33490C=
NG_034076.2:g.34282C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000314742.13:c.1122C=
MANE Select
ENSP00000318423.8:p.Ile374=
ENST00000314742.12:c.1122C=
ENSP00000318423.8:p.Ile374=
ENST00000559149.5:n.1279C=
ENST00000560133.5:c.765C=
ENSP00000454929.1:p.Ile255=
ENST00000560783.1:c.91C=
ENST00000561308.5:c.1122C=
ENSP00000454200.1:p.Ile374=
NM_001040616.2:c.1122C=
NP_001035706.1:p.Ile374=
XM_005254941.1:c.1122C=
XP_005254998.1:p.Ile374=
XM_005254943.1:c.1122C=
XP_005255000.1:p.Ile374=
XR_243210.2:n.1225C=
XR_429464.2:n.1225C=
XR_931862.1:n.1225C=
XR_931863.1:n.1225C=
XR_931864.1:n.1225C=
NM_001352507.1:c.375C=
NP_001339436.1:p.Ile125=
NM_001352508.1:c.1077C=
NP_001339437.1:p.Ile359=
NR_148017.1:n.1345C=
NR_148018.1:n.1345C=
NR_148019.1:n.1349C=
XM_005254941.2:c.1122C=
XP_005254998.1:p.Ile374=
XM_005254943.2:c.1122C=
XP_005255000.1:p.Ile374=
XM_017022399.2:c.375C=
XP_016877888.1:p.Ile125=
XM_017022400.2:c.375C=
XP_016877889.1:p.Ile125=
XM_024449979.1:c.1122C=
XP_024305747.1:p.Ile374=
XM_024449980.1:c.1122C=
XP_024305748.1:p.Ile374=
XR_001751346.2:n.2137C=
XR_001751347.2:n.2137C=
XR_001751348.2:n.2137C=
XR_002957655.1:n.2137C=
XR_931862.3:n.2137C=
NM_001040616.3:c.1122C=
MANE Select
NP_001035706.2:p.Ile374=
NM_001352507.2:c.375C=
NP_001339436.1:p.Ile125=
NM_001352508.2:c.1077C=
NP_001339437.1:p.Ile359=
NR_148017.2:n.1289C=
NR_148018.2:n.1289C=
NR_148019.2:n.1293C=