×
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_000016.10:g.84159756T>C , CM000678.2:g.84159756T>C
GRCh38
NC_000016.9:g.84193361T>C , CM000678.1:g.84193361T>C
GRCh37
NC_000016.8:g.82750862T>C
NCBI36
NG_021174.1:g.19497T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378553.10:c.823T>C
MANE Select
ENSP00000367815.5:p.Leu275=
ENST00000378553.9:c.823T>C
ENSP00000367815.5:p.Leu275=
ENST00000563093.5:c.823T>C
ENSP00000457373.1:p.Leu275=
ENST00000563818.5:n.452T>C
ENST00000567666.1:n.212T>C
ENST00000570298.5:n.977T>C
NM_178452.4:c.823T>C
NP_848547.4:p.Leu275=
XM_006721129.1:c.823T>C
XP_006721192.1:p.Leu275=
XM_011522850.1:c.823T>C
XP_011521152.1:p.Leu275=
XM_011522851.1:c.823T>C
XP_011521153.1:p.Leu275=
XM_011522852.1:c.823T>C
XP_011521154.1:p.Leu275=
XM_011522853.1:c.823T>C
XP_011521155.1:p.Leu275=
XM_011522854.1:c.823T>C
XP_011521156.1:p.Leu275=
XM_011522855.1:c.823T>C
XP_011521157.1:p.Leu275=
XM_011522856.1:c.562T>C
XP_011521158.1:p.Leu188=
XM_011522857.1:c.823T>C
XP_011521159.1:p.Leu275=
XM_011522858.1:c.823T>C
XP_011521160.1:p.Leu275=
XM_011522859.1:c.67T>C
XP_011521161.1:p.Leu23=
XM_011522860.1:c.67T>C
XP_011521162.1:p.Leu23=
NM_001318756.1:c.67T>C
NP_001305685.1:p.Leu23=
NM_178452.5:c.823T>C
NP_848547.4:p.Leu275=
XM_006721129.3:c.823T>C
XP_006721192.1:p.Leu275=
XM_011522853.3:c.823T>C
XP_011521155.1:p.Leu275=
XM_011522854.3:c.823T>C
XP_011521156.1:p.Leu275=
XM_011522855.3:c.823T>C
XP_011521157.1:p.Leu275=
XM_011522857.3:c.823T>C
XP_011521159.1:p.Leu275=
XM_011522858.3:c.823T>C
XP_011521160.1:p.Leu275=
XM_017022918.2:c.823T>C
XP_016878407.1:p.Leu275=
XM_017022919.1:c.562T>C
XP_016878408.1:p.Leu188=
XM_017022920.2:c.67T>C
XP_016878409.1:p.Leu23=
XM_017022921.2:c.67T>C
XP_016878410.1:p.Leu23=
XM_017022922.2:c.67T>C
XP_016878411.1:p.Leu23=
XR_001751829.2:n.997T>C
XR_001751830.2:n.997T>C
XR_001751831.2:n.997T>C
XR_001751832.1:n.1306T>C
NM_178452.6:c.823T>C
MANE Select
NP_848547.4:p.Leu275=