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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.132572076C>A , CM000670.2:g.132572076C>A
GRCh38
NC_000008.10:g.133584324C>A , CM000670.1:g.133584324C>A
GRCh37
NC_000008.9:g.133653506C>A
NCBI36
NG_033068.1:g.108540G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000620350.5:c.*230G>T
MANE Select
ENSP00000484634.1:n.*230G>T
ENST00000519595.5:c.*230G>T
ENSP00000429791.1:n.*230G>T
ENST00000618342.1:c.1631G>T
ENSP00000484802.1:n.1631G>T
ENST00000620350.4:c.*230G>T
ENSP00000484634.1:n.*230G>T
NM_012472.4:c.*230G>T
NP_036604.2:n.*230G>T
NR_073525.1:n.1855G>T
XM_006716538.2:c.*230G>T
XP_006716601.2:n.*230G>T
XM_011516950.1:c.*230G>T
XP_011515252.1:n.*230G>T
XM_011516952.1:c.*230G>T
XP_011515254.1:n.*230G>T
XM_011516953.1:c.*230G>T
XP_011515255.1:n.*230G>T
XM_011516954.1:c.*230G>T
XP_011515256.1:n.*230G>T
XR_428377.2:n.1883G>T
NM_001321961.1:c.*230G>T
NP_001308890.1:n.*230G>T
NM_001321962.1:c.*230G>T
NP_001308891.1:n.*230G>T
NM_001321963.1:c.*230G>T
NP_001308892.1:n.*230G>T
NM_001321964.1:c.*230G>T
NP_001308893.1:n.*230G>T
NM_001321965.1:c.*230G>T
NP_001308894.1:n.*230G>T
NM_001321966.1:c.*230G>T
NP_001308895.1:n.*230G>T
NM_012472.5:c.*230G>T
NP_036604.2:n.*230G>T
NR_073525.2:n.1855G>T
NR_135905.1:n.1844G>T
NR_135906.1:n.1285G>T
NR_135907.1:n.1531G>T
NR_135908.1:n.1225G>T
NR_135909.1:n.1649G>T
NR_135910.1:n.1956G>T
NR_135911.1:n.2035G>T
NR_135912.1:n.2594G>T
NR_135913.1:n.2281G>T
XM_006716538.3:c.*230G>T
XP_006716601.2:n.*230G>T
XM_011516950.2:c.*230G>T
XP_011515252.1:n.*230G>T
XM_017013296.1:c.*230G>T
XP_016868785.1:n.*230G>T
XM_017013297.1:c.*230G>T
XP_016868786.1:n.*230G>T
XM_017013298.1:c.*230G>T
XP_016868787.1:n.*230G>T
NM_012472.6:c.*230G>T
MANE Select
NP_036604.2:n.*230G>T
NM_001321961.2:c.*230G>T
NP_001308890.1:n.*230G>T
NM_001321962.2:c.*230G>T
NP_001308891.1:n.*230G>T
NM_001321963.2:c.*230G>T
NP_001308892.1:n.*230G>T
NM_001321964.2:c.*230G>T
NP_001308893.1:n.*230G>T
NM_001321965.2:c.*230G>T
NP_001308894.1:n.*230G>T
NM_001321966.2:c.*230G>T
NP_001308895.1:n.*230G>T
NR_073525.3:n.1783G>T
NR_135905.2:n.1772G>T
NR_135906.2:n.1213G>T
NR_135907.2:n.1459G>T
NR_135908.2:n.1153G>T
NR_135909.2:n.1669G>T
NR_135910.2:n.2019G>T
NR_135911.2:n.2139G>T
NR_135912.2:n.2698G>T
NR_135913.2:n.2385G>T