×
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.40405847T= , CM000677.2:g.40405847T=
GRCh38
NC_000015.9:g.40698048T= , CM000677.1:g.40698048T=
GRCh37
NC_000015.8:g.38485340T=
NCBI36
NG_011986.1:g.5363T=
NG_011986.2:g.5363T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000479013.7:c.20T=
ENSP00000417990.3:p.Leu7=
ENST00000487418.8:c.20T=
MANE Select
ENSP00000418397.3:p.Leu7=
ENST00000610693.5:c.20T=
ENSP00000479359.2:p.Leu7=
ENST00000650656.1:c.29T=
ENSP00000498731.1:p.Leu10=
ENST00000651168.1:c.29T=
ENSP00000499074.1:p.Leu10=
ENST00000479013.6:c.29T=
ENSP00000417990.2:p.Leu10=
ENST00000487418.6:c.29T=
ENSP00000418397.2:p.Leu10=
ENST00000610693.4:c.29T=
ENSP00000479359.1:p.Leu10=
NM_001159508.1:c.29T=
NP_001152980.1:p.Leu10=
NM_002225.3:c.29T=
NP_002216.2:p.Leu10=
XM_005254350.2:c.29T=
XP_005254407.1:p.Leu10=
XM_005254356.2:c.29T=
XP_005254413.1:p.Leu10=
XM_006720492.2:c.29T=
XP_006720555.1:p.Leu10=
XM_006720493.2:c.29T=
XP_006720556.1:p.Leu10=
XM_006720494.2:c.29T=
XP_006720557.1:p.Leu10=
XM_006720495.2:c.29T=
XP_006720558.1:p.Leu10=
XM_011521523.1:c.29T=
XP_011519825.1:p.Leu10=
XM_011521524.1:c.29T=
XP_011519826.1:p.Leu10=
XR_243097.3:n.29T=
XR_243098.2:n.29T=
XR_429453.2:n.130T=
NM_001159508.2:c.20T=
NP_001152980.2:p.Leu7=
NM_001354597.2:c.-408T=
NP_001341526.1:n.-408T=
NM_001354598.2:c.20T=
NP_001341527.2:p.Leu7=
NM_001354599.2:c.20T=
NP_001341528.2:p.Leu7=
NM_001354600.2:c.20T=
NP_001341529.2:p.Leu7=
NM_001354601.2:c.20T=
NP_001341530.2:p.Leu7=
NM_002225.4:c.20T=
NP_002216.3:p.Leu7=
NR_148925.1:n.51T=
XM_006720495.3:c.29T=
XP_006720558.1:p.Leu10=
XM_017022149.1:c.29T=
XP_016877638.1:p.Leu10=
XM_017022150.1:c.29T=
XP_016877639.1:p.Leu10=
XM_017022153.1:c.29T=
XP_016877642.1:p.Leu10=
XM_017022155.2:c.29T=
XP_016877644.1:p.Leu10=
XM_017022157.1:c.29T=
XP_016877646.1:p.Leu10=
XM_017022158.2:c.29T=
XP_016877647.1:p.Leu10=
XR_001751264.1:n.41T=
NM_001159508.3:c.20T=
NP_001152980.2:p.Leu7=
NM_001354597.3:c.-408T=
NP_001341526.1:n.-408T=
NM_001354598.3:c.20T=
NP_001341527.2:p.Leu7=
NM_001354599.3:c.20T=
NP_001341528.2:p.Leu7=
NM_001354600.3:c.20T=
NP_001341529.2:p.Leu7=
NM_001354601.3:c.20T=
NP_001341530.2:p.Leu7=
NM_002225.5:c.20T=
MANE Select
NP_002216.3:p.Leu7=
NR_148925.2:n.53T=