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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_000007.14:g.96121723G>C , CM000669.2:g.96121723G>C
GRCh38
NC_000007.13:g.95751035G>C , CM000669.1:g.95751035G>C
GRCh37
NC_000007.12:g.95588971G>C
NCBI36
NG_012247.1:g.205425C>G
NG_012247.2:g.205425C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265631.10:c.1773C>G
MANE Select
ENSP00000265631.6:p.Pro591=
ENST00000265631.9:c.1773C>G
ENSP00000265631.5:p.Pro591=
ENST00000416240.6:c.1776C>G
ENSP00000400101.2:p.Pro592=
ENST00000494085.1:n.276C>G
NM_001160210.1:c.1776C>G
NP_001153682.1:p.Pro592=
NM_014251.2:c.1773C>G
NP_055066.1:p.Pro591=
NR_027662.1:n.1848C>G
XM_006715831.2:c.1806C>G
XP_006715894.1:p.Pro602=
XM_011515728.1:c.921C>G
XP_011514030.1:p.Pro307=
XM_006715831.4:c.1806C>G
XP_006715894.1:p.Pro602=
XM_017011663.1:c.1764C>G
XP_016867152.1:p.Pro588=
XM_017011664.2:c.921C>G
XP_016867153.1:p.Pro307=
XM_017011665.1:c.921C>G
XP_016867154.1:p.Pro307=
XR_001744525.2:n.2019C>G
XR_002956405.1:n.2577C>G
NM_014251.3:c.1773C>G
MANE Select
NP_055066.1:p.Pro591=
NR_027662.2:n.1799C>G
NM_001160210.2:c.1776C>G
NP_001153682.1:p.Pro592=