×
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_000009.12:g.97675520T>C , CM000671.2:g.97675520T>C
GRCh38
NC_000009.11:g.100437802T>C , CM000671.1:g.100437802T>C
GRCh37
NC_000009.10:g.99477623T>C
NCBI36
NG_011642.1:g.26890A>G , LRG_471:g.26890A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.741A>G
MANE Select
ENSP00000364270.5:p.Gly247=
ENST00000375128.4:c.741A>G
ENSP00000364270.4:p.Gly247=
ENST00000462523.5:c.*177A>G
ENSP00000433006.1:n.*177A>G
ENST00000485042.1:n.253A>G
NM_000380.3:c.741A>G , LRG_471t1:c.741A>G
NP_000371.1:p.Gly247=
NR_027302.1:n.1089A>G
XM_006717278.1:c.741A>G
XP_006717341.1:p.Gly247=
XM_011518988.1:c.741A>G
XP_011517290.1:p.Gly247=
XR_929839.1:n.1272A>G
NM_001354975.1:c.615A>G
NP_001341904.1:p.Gly205=
NR_149091.1:n.586A>G
NR_149092.1:n.752A>G
NR_149093.1:n.1278A>G
NR_149094.1:n.1172A>G
NM_000380.4:c.741A>G
MANE Select
NP_000371.1:p.Gly247=
NM_001354975.2:c.615A>G
NP_001341904.1:p.Gly205=
NR_027302.2:n.1020A>G
NR_149091.2:n.517A>G
NR_149092.2:n.683A>G
NR_149093.2:n.1209A>G
NR_149094.2:n.1103A>G