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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_000005.10:g.139379769G>T , CM000667.2:g.139379769G>T
GRCh38
NC_000005.9:g.138715458G>T , CM000667.1:g.138715458G>T
GRCh37
NC_000005.8:g.138743357G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000348729.8:c.834C>A
MANE Select
ENSP00000302701.4:p.Pro278=
ENST00000348729.7:c.834C>A
ENSP00000302701.4:p.Pro278=
ENST00000353963.7:c.846C>A
ENSP00000302851.5:p.Pro282=
ENST00000504513.1:c.164+187C>A
ENST00000506512.1:n.445C>A
NM_005847.4:c.834C>A
NP_005838.3:p.Pro278=
NM_152685.3:c.846C>A
NP_689898.2:p.Pro282=
XM_005272148.3:c.954C>A
XP_005272205.3:p.Pro318=
XM_005272149.3:c.942C>A
XP_005272206.3:p.Pro314=
XM_006714741.2:c.954C>A
XP_006714804.2:p.Pro318=
XM_011543765.1:c.954C>A
XP_011542067.1:p.Pro318=
XM_011543766.1:c.735C>A
XP_011542068.1:p.Pro245=
XM_011543767.1:c.639C>A
XP_011542069.1:p.Pro213=
XM_011543768.1:c.519C>A
XP_011542070.1:p.Pro173=
XM_011543769.1:c.129C>A
XP_011542071.1:p.Pro43=
XM_005272149.4:c.942C>A
XP_005272206.3:p.Pro314=
XM_011543765.2:c.954C>A
XP_011542067.1:p.Pro318=
NM_005847.5:c.834C>A
MANE Select
NP_005838.3:p.Pro278=
NM_152685.4:c.846C>A
NP_689898.2:p.Pro282=