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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.52083260A>T , CM000668.2:g.52083260A>T
GRCh38
NC_000006.11:g.51948058A>T , CM000668.1:g.51948058A>T
GRCh37
NC_000006.10:g.52056017A>T
NCBI36
NG_008753.1:g.9366T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000371117.8:c.53-5T>A
MANE Select
ENSP00000360158.3:n.53-5T>A
ENST00000340994.4:c.53-5T>A
ENSP00000341097.4:n.53-5T>A
ENST00000371117.7:c.53-5T>A
ENSP00000360158.3:n.53-5T>A
NM_138694.3:c.53-5T>A
NP_619639.3:n.53-5T>A
NM_170724.2:c.53-5T>A
NP_733842.2:n.53-5T>A
XM_011514679.1:c.53-5T>A
XP_011512981.1:n.53-5T>A
XM_011514680.1:c.53-5T>A
XP_011512982.1:n.53-5T>A
XM_011514681.1:c.53-5T>A
XP_011512983.1:n.53-5T>A
XM_011514682.1:c.53-5T>A
XP_011512984.1:n.53-5T>A
XM_011514683.1:c.53-5T>A
XP_011512985.1:n.53-5T>A
XM_011514685.1:c.53-5T>A
XP_011512987.1:n.53-5T>A
XM_011514686.1:c.53-5T>A
XP_011512988.1:n.53-5T>A
XM_011514687.1:c.53-5T>A
XP_011512989.1:n.53-5T>A
XM_011514688.1:c.53-5T>A
XP_011512990.1:n.53-5T>A
XM_011514689.1:c.53-5T>A
XP_011512991.1:n.53-5T>A
XM_011514680.3:c.53-5T>A
XP_011512982.1:n.53-5T>A
XM_011514682.3:c.53-5T>A
XP_011512984.1:n.53-5T>A
XM_011514683.3:c.53-5T>A
XP_011512985.1:n.53-5T>A
XM_011514686.2:c.53-5T>A
XP_011512988.1:n.53-5T>A
XM_011514688.2:c.53-5T>A
XP_011512990.1:n.53-5T>A
XM_017010944.2:c.53-5T>A
XP_016866433.1:n.53-5T>A
XM_017010945.2:c.53-5T>A
XP_016866434.1:n.53-5T>A
XM_017010946.2:c.53-5T>A
XP_016866435.1:n.53-5T>A
XM_017010947.2:c.53-5T>A
XP_016866436.1:n.53-5T>A
XM_017010950.1:c.53-5T>A
XP_016866439.1:n.53-5T>A
XM_017010951.1:c.53-5T>A
XP_016866440.1:n.53-5T>A
XM_017010952.1:c.53-5T>A
XP_016866441.1:n.53-5T>A
XR_001743469.1:n.329-5T>A
NM_138694.4:c.53-5T>A
MANE Select
NP_619639.3:n.53-5T>A
NM_170724.3:c.53-5T>A
NP_733842.2:n.53-5T>A