×
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.113288201G= , CM000671.2:g.113288201G=
GRCh38
NC_000009.11:g.116050481G= , CM000671.1:g.116050481G=
GRCh37
NC_000009.10:g.115090302G=
NCBI36
NG_034225.1:g.17568G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000374198.5:c.959G=
MANE Select
ENSP00000363313.4:p.Gly320=
ENST00000374199.9:c.962G=
ENSP00000363315.4:p.Gly321=
ENST00000374198.4:c.962G=
ENSP00000363313.3:p.Gly321=
ENST00000374199.8:c.959G=
ENSP00000363315.3:p.Gly320=
NM_001244926.1:c.959G=
NP_001231855.1:p.Gly320=
NM_004697.4:c.962G=
NP_004688.2:p.Gly321=
XM_005252300.2:c.233G=
XP_005252357.1:p.Gly78=
XM_011519181.1:c.962G=
XP_011517483.1:p.Gly321=
NM_001322266.1:c.233G=
NP_001309195.1:p.Gly78=
NM_001322267.1:c.233G=
NP_001309196.1:p.Gly78=
NR_136265.1:n.1072G=
NR_136266.1:n.1069G=
NM_001244926.2:c.959G=
MANE Select
NP_001231855.1:p.Gly320=
NM_001322266.2:c.233G=
NP_001309195.1:p.Gly78=
NM_001322267.2:c.233G=
NP_001309196.1:p.Gly78=
NM_004697.5:c.962G=
NP_004688.2:p.Gly321=
NR_136265.2:n.1048G=
NR_136266.2:n.1045G=