×
INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500 We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.96191152A>G , CM000669.2:g.96191152A>G
GRCh38
NC_000007.13:g.95820464A>G , CM000669.1:g.95820464A>G
GRCh37
NC_000007.12:g.95658400A>G
NCBI36
NG_012247.1:g.135996T>C
NG_012247.2:g.135996T>C
Transcript Alleles
HGVS
Amino-acid Change
NM_014251.3:c.711T>C
MANE Select
NP_055066.1:p.Tyr237=
ENST00000265631.10:c.711T>C
MANE Select
ENSP00000265631.6:p.Tyr237=
NM_001160210.1:c.711T>C
NP_001153682.1:p.Tyr237=
NM_001160210.2:c.711T>C
NP_001153682.1:p.Tyr237=
NM_014251.2:c.711T>C
NP_055066.1:p.Tyr237=
NR_027662.1:n.786T>C
NR_027662.2:n.737T>C
ENST00000265631.9:c.711T>C
ENSP00000265631.5:p.Tyr237=
ENST00000416240.6:c.711T>C
ENSP00000400101.2:p.Tyr237=
XM_006715831.2:c.744T>C
XP_006715894.1:p.Tyr248=
XM_006715831.4:c.744T>C
XP_006715894.1:p.Tyr248=
XM_011515727.1:c.744T>C
XP_011514029.1:p.Tyr248=
XM_011515727.3:c.744T>C
XP_011514029.1:p.Tyr248=
XM_011515728.1:c.-48T>C
XP_011514030.1:n.-48T>C
XM_017011663.1:c.702T>C
XP_016867152.1:p.Tyr234=
XM_017011664.2:c.-48T>C
XP_016867153.1:n.-48T>C
XM_017011665.1:c.-48T>C
XP_016867154.1:n.-48T>C
XR_001744525.2:n.882T>C
XR_002956405.1:n.1024T>C