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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.132572126A>G , CM000670.2:g.132572126A>G
GRCh38
NC_000008.10:g.133584374A>G , CM000670.1:g.133584374A>G
GRCh37
NC_000008.9:g.133653556A>G
NCBI36
NG_033068.1:g.108490T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000620350.5:c.*180T>C
MANE Select
ENSP00000484634.1:n.*180T>C
ENST00000519595.5:c.*180T>C
ENSP00000429791.1:n.*180T>C
ENST00000618342.1:c.1581T>C
ENSP00000484802.1:n.1581T>C
ENST00000620350.4:c.*180T>C
ENSP00000484634.1:n.*180T>C
NM_012472.4:c.*180T>C
NP_036604.2:n.*180T>C
NR_073525.1:n.1805T>C
XM_006716538.2:c.*180T>C
XP_006716601.2:n.*180T>C
XM_011516950.1:c.*180T>C
XP_011515252.1:n.*180T>C
XM_011516952.1:c.*180T>C
XP_011515254.1:n.*180T>C
XM_011516953.1:c.*180T>C
XP_011515255.1:n.*180T>C
XM_011516954.1:c.*180T>C
XP_011515256.1:n.*180T>C
XR_428377.2:n.1833T>C
NM_001321961.1:c.*180T>C
NP_001308890.1:n.*180T>C
NM_001321962.1:c.*180T>C
NP_001308891.1:n.*180T>C
NM_001321963.1:c.*180T>C
NP_001308892.1:n.*180T>C
NM_001321964.1:c.*180T>C
NP_001308893.1:n.*180T>C
NM_001321965.1:c.*180T>C
NP_001308894.1:n.*180T>C
NM_001321966.1:c.*180T>C
NP_001308895.1:n.*180T>C
NM_012472.5:c.*180T>C
NP_036604.2:n.*180T>C
NR_073525.2:n.1805T>C
NR_135905.1:n.1794T>C
NR_135906.1:n.1235T>C
NR_135907.1:n.1481T>C
NR_135908.1:n.1175T>C
NR_135909.1:n.1599T>C
NR_135910.1:n.1906T>C
NR_135911.1:n.1985T>C
NR_135912.1:n.2544T>C
NR_135913.1:n.2231T>C
XM_006716538.3:c.*180T>C
XP_006716601.2:n.*180T>C
XM_011516950.2:c.*180T>C
XP_011515252.1:n.*180T>C
XM_017013296.1:c.*180T>C
XP_016868785.1:n.*180T>C
XM_017013297.1:c.*180T>C
XP_016868786.1:n.*180T>C
XM_017013298.1:c.*180T>C
XP_016868787.1:n.*180T>C
NM_012472.6:c.*180T>C
MANE Select
NP_036604.2:n.*180T>C
NM_001321961.2:c.*180T>C
NP_001308890.1:n.*180T>C
NM_001321962.2:c.*180T>C
NP_001308891.1:n.*180T>C
NM_001321963.2:c.*180T>C
NP_001308892.1:n.*180T>C
NM_001321964.2:c.*180T>C
NP_001308893.1:n.*180T>C
NM_001321965.2:c.*180T>C
NP_001308894.1:n.*180T>C
NM_001321966.2:c.*180T>C
NP_001308895.1:n.*180T>C
NR_073525.3:n.1733T>C
NR_135905.2:n.1722T>C
NR_135906.2:n.1163T>C
NR_135907.2:n.1409T>C
NR_135908.2:n.1103T>C
NR_135909.2:n.1619T>C
NR_135910.2:n.1969T>C
NR_135911.2:n.2089T>C
NR_135912.2:n.2648T>C
NR_135913.2:n.2335T>C