×
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.27851406G>A , CM000677.2:g.27851406G>A
GRCh38
NC_000015.9:g.28096552G>A , CM000677.1:g.28096552G>A
GRCh37
NC_000015.8:g.25770147G>A
NCBI36
NG_009846.1:g.252907C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000354638.8:c.2314C>T
MANE Select
ENSP00000346659.3:p.Leu772=
ENST00000353809.9:c.2242C>T
ENSP00000261276.8:p.Leu748=
ENST00000354638.7:c.2314C>T
ENSP00000346659.3:p.Leu772=
NM_000275.2:c.2314C>T
NP_000266.2:p.Leu772=
NM_001300984.1:c.2242C>T
NP_001287913.1:p.Leu748=
XM_011521639.1:c.2380C>T
XP_011519941.1:p.Leu794=
XM_011521640.1:c.2356C>T
XP_011519942.1:p.Leu786=
XM_011521641.1:c.2338C>T
XP_011519943.1:p.Leu780=
XM_011521642.1:c.2308C>T
XP_011519944.1:p.Leu770=
XM_011521643.1:c.2266C>T
XP_011519945.1:p.Leu756=
XM_011521644.1:c.2242C>T
XP_011519946.1:p.Leu748=
XM_011521645.1:c.2173C>T
XP_011519947.1:p.Leu725=
XM_011521640.2:c.2356C>T
XP_011519942.1:p.Leu786=
XM_017022255.1:c.2380C>T
XP_016877744.1:p.Leu794=
XM_017022256.1:c.2338C>T
XP_016877745.1:p.Leu780=
XM_017022257.1:c.2308C>T
XP_016877746.1:p.Leu770=
XM_017022258.1:c.2338C>T
XP_016877747.1:p.Leu780=
XM_017022259.1:c.2266C>T
XP_016877748.1:p.Leu756=
XM_017022260.1:c.2242C>T
XP_016877749.1:p.Leu748=
XM_017022261.1:c.2185C>T
XP_016877750.1:p.Leu729=
XM_017022262.1:c.2268+19748C>T
XP_016877751.1:n.2268+19748C>T
XM_017022263.1:c.2173C>T
XP_016877752.1:p.Leu725=
XM_017022264.1:c.2173C>T
XP_016877753.1:p.Leu725=
NM_000275.3:c.2314C>T
MANE Select
NP_000266.2:p.Leu772=
NM_001300984.2:c.2242C>T
NP_001287913.1:p.Leu748=