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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_000011.10:g.68410120G>C , CM000673.2:g.68410120G>C
GRCh38
NC_000011.9:g.68177588G>C , CM000673.1:g.68177588G>C
GRCh37
NC_000011.8:g.67934164G>C
NCBI36
NG_015835.1:g.102481G>C
NG_015835.2:g.102481G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000294304.12:c.2298G>C
MANE Select
ENSP00000294304.6:p.Leu766=
ENST00000294304.11:c.2298G>C
ENSP00000294304.6:p.Leu766=
ENST00000528714.1:n.92G>C
ENST00000529993.5:c.*904G>C
ENSP00000436652.1:n.*904G>C
NM_001291902.1:c.555G>C
NP_001278831.1:p.Leu185=
NM_002335.3:c.2298G>C
NP_002326.2:p.Leu766=
XM_005273994.2:c.2298G>C
XP_005274051.1:p.Leu766=
XM_011545029.1:c.2325G>C
XP_011543331.1:p.Leu775=
XM_011545030.1:c.2325G>C
XP_011543332.1:p.Leu775=
XM_011545031.1:c.2325G>C
XP_011543333.1:p.Leu775=
XR_949925.1:n.2340G>C
XR_949926.1:n.2340G>C
XM_017017735.1:c.555G>C
XP_016873224.1:p.Leu185=
XR_001747874.1:n.2340G>C
XR_949925.2:n.2340G>C
XR_949926.2:n.2340G>C
NM_002335.4:c.2298G>C
MANE Select
NP_002326.2:p.Leu766=
NM_001291902.2:c.555G>C
NP_001278831.1:p.Leu185=