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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_000008.11:g.143728555A>G , CM000670.2:g.143728555A>G
GRCh38
NC_000008.10:g.144810725A>G , CM000670.1:g.144810725A>G
GRCh37
NC_000008.9:g.144882713A>G
NCBI36
NG_016652.1:g.10190T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000388913.4:c.906T>C
MANE Select
ENSP00000373565.3:p.Tyr302=
ENST00000650760.1:c.1509T>C
ENSP00000499217.1:p.Tyr503=
ENST00000388913.3:c.906T>C
ENSP00000373565.3:p.Tyr302=
ENST00000395103.2:c.86T>C
NM_198488.3:c.906T>C
NP_940890.3:p.Tyr302=
XM_005250887.2:c.963T>C
XP_005250944.1:p.Tyr321=
XM_005250888.2:c.924T>C
XP_005250945.1:p.Tyr308=
XM_005250889.2:c.906T>C
XP_005250946.1:p.Tyr302=
XM_011516980.1:c.1227T>C
XP_011515282.1:p.Tyr409=
XM_011516981.1:c.1074T>C
XP_011515283.1:p.Tyr358=
XM_005250887.3:c.963T>C
XP_005250944.1:p.Tyr321=
XM_005250888.3:c.924T>C
XP_005250945.1:p.Tyr308=
XM_005250889.3:c.906T>C
XP_005250946.1:p.Tyr302=
XM_011516980.2:c.1509T>C
XP_011515282.2:p.Tyr503=
XM_011516981.2:c.1074T>C
XP_011515283.1:p.Tyr358=
XM_024447131.1:c.906T>C
XP_024302899.1:p.Tyr302=
NM_198488.4:c.906T>C
NP_940890.3:p.Tyr302=
NM_198488.5:c.906T>C
MANE Select
NP_940890.4:p.Tyr302=