×
SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.5711545G>C , CM000666.2:g.5711545G>C
GRCh38
NC_000004.11:g.5713272G>C , CM000666.1:g.5713272G>C
GRCh37
NC_000004.10:g.5764173G>C
NCBI36
NG_008843.1:g.5349G>C
NG_015821.1:g.3004C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264956.11:c.165G>C
MANE Select
ENSP00000264956.6:p.Thr55=
ENST00000264956.10:c.165G>C
ENSP00000264956.6:p.Thr55=
ENST00000509451.1:c.165G>C
ENSP00000426774.1:p.Thr55=
NM_001306090.1:c.165G>C
NP_001293019.1:p.Thr55=
NM_001306092.1:c.165G>C
NP_001293021.1:p.Thr55=
NM_153717.2:c.165G>C
NP_714928.1:p.Thr55=
XM_006713865.2:c.165G>C
XP_006713928.1:p.Thr55=
XM_006713866.2:c.165G>C
XP_006713929.1:p.Thr55=
XM_011513419.1:c.165G>C
XP_011511721.1:p.Thr55=
XR_427473.2:n.355G>C
XR_427475.2:n.355G>C
XR_427476.2:n.355G>C
XR_924920.1:n.355G>C
XR_924921.1:n.355G>C
XR_924922.1:n.355G>C
XR_924923.1:n.355G>C
XR_924924.1:n.355G>C
XR_924925.1:n.355G>C
XR_924926.1:n.355G>C
XR_924927.1:n.355G>C
XR_924928.1:n.357G>C
XM_006713865.3:c.165G>C
XP_006713928.1:p.Thr55=
XM_006713866.3:c.165G>C
XP_006713929.1:p.Thr55=
XM_011513419.2:c.165G>C
XP_011511721.1:p.Thr55=
XM_017007883.2:c.165G>C
XP_016863372.1:p.Thr55=
XR_001741164.1:n.345G>C
XR_001741165.1:n.345G>C
XR_001741166.1:n.345G>C
XR_001741167.1:n.345G>C
XR_001741168.1:n.345G>C
XR_001741169.2:n.347G>C
XR_001741170.1:n.347G>C
XR_427473.3:n.345G>C
XR_427475.3:n.345G>C
XR_427476.3:n.345G>C
XR_924920.2:n.345G>C
XR_924921.2:n.345G>C
XR_924922.2:n.345G>C
XR_924924.2:n.345G>C
XR_924925.2:n.345G>C
XR_924926.2:n.345G>C
NM_153717.3:c.165G>C
MANE Select
NP_714928.1:p.Thr55=
NM_001306090.2:c.165G>C
NP_001293019.1:p.Thr55=
NM_001306092.2:c.165G>C
NP_001293021.1:p.Thr55=