×
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_000013.11:g.28034208T>G , CM000675.2:g.28034208T>G
GRCh38
NC_000013.10:g.28608345T>G , CM000675.1:g.28608345T>G
GRCh37
NC_000013.9:g.27506345T>G
NCBI36
NG_007066.1:g.71361A>C , LRG_457:g.71361A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241453.12:c.1711A>C
MANE Select
ENSP00000241453.7:p.Arg571=
ENST00000241453.11:c.1711A>C
ENSP00000241453.7:p.Arg571=
ENST00000380987.2:c.1711A>C
ENSP00000370374.2:p.Arg571=
NM_004119.2:c.1711A>C , LRG_457t1:c.1711A>C
NP_004110.2:p.Arg571=
NR_130706.1:n.1793A>C
XM_011535015.1:c.1654A>C
XP_011533317.1:p.Arg552=
XM_011535016.1:c.1186A>C
XP_011533318.1:p.Arg396=
XM_011535017.1:c.1186A>C
XP_011533319.1:p.Arg396=
XM_011535018.1:c.1186A>C
XP_011533320.1:p.Arg396=
XM_011535015.2:c.1654A>C
XP_011533317.1:p.Arg552=
XM_011535017.2:c.1186A>C
XP_011533319.1:p.Arg396=
XM_011535018.2:c.1186A>C
XP_011533320.1:p.Arg396=
XM_017020486.1:c.1495A>C
XP_016875975.1:p.Arg499=
XM_017020487.1:c.1186A>C
XP_016875976.1:p.Arg396=
XM_017020488.1:c.832A>C
XP_016875977.1:p.Arg278=
XM_017020489.1:c.814A>C
XP_016875978.1:p.Arg272=
NM_004119.3:c.1711A>C
MANE Select
NP_004110.2:p.Arg571=
NR_130706.2:n.1777A>C