×
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_000008.11:g.132572106T>G , CM000670.2:g.132572106T>G
GRCh38
NC_000008.10:g.133584354T>G , CM000670.1:g.133584354T>G
GRCh37
NC_000008.9:g.133653536T>G
NCBI36
NG_033068.1:g.108510A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000620350.5:c.*200A>C
MANE Select
ENSP00000484634.1:n.*200A>C
ENST00000519595.5:c.*200A>C
ENSP00000429791.1:n.*200A>C
ENST00000618342.1:c.1601A>C
ENSP00000484802.1:n.1601A>C
ENST00000620350.4:c.*200A>C
ENSP00000484634.1:n.*200A>C
NM_012472.4:c.*200A>C
NP_036604.2:n.*200A>C
NR_073525.1:n.1825A>C
XM_006716538.2:c.*200A>C
XP_006716601.2:n.*200A>C
XM_011516950.1:c.*200A>C
XP_011515252.1:n.*200A>C
XM_011516952.1:c.*200A>C
XP_011515254.1:n.*200A>C
XM_011516953.1:c.*200A>C
XP_011515255.1:n.*200A>C
XM_011516954.1:c.*200A>C
XP_011515256.1:n.*200A>C
XR_428377.2:n.1853A>C
NM_001321961.1:c.*200A>C
NP_001308890.1:n.*200A>C
NM_001321962.1:c.*200A>C
NP_001308891.1:n.*200A>C
NM_001321963.1:c.*200A>C
NP_001308892.1:n.*200A>C
NM_001321964.1:c.*200A>C
NP_001308893.1:n.*200A>C
NM_001321965.1:c.*200A>C
NP_001308894.1:n.*200A>C
NM_001321966.1:c.*200A>C
NP_001308895.1:n.*200A>C
NM_012472.5:c.*200A>C
NP_036604.2:n.*200A>C
NR_073525.2:n.1825A>C
NR_135905.1:n.1814A>C
NR_135906.1:n.1255A>C
NR_135907.1:n.1501A>C
NR_135908.1:n.1195A>C
NR_135909.1:n.1619A>C
NR_135910.1:n.1926A>C
NR_135911.1:n.2005A>C
NR_135912.1:n.2564A>C
NR_135913.1:n.2251A>C
XM_006716538.3:c.*200A>C
XP_006716601.2:n.*200A>C
XM_011516950.2:c.*200A>C
XP_011515252.1:n.*200A>C
XM_017013296.1:c.*200A>C
XP_016868785.1:n.*200A>C
XM_017013297.1:c.*200A>C
XP_016868786.1:n.*200A>C
XM_017013298.1:c.*200A>C
XP_016868787.1:n.*200A>C
NM_012472.6:c.*200A>C
MANE Select
NP_036604.2:n.*200A>C
NM_001321961.2:c.*200A>C
NP_001308890.1:n.*200A>C
NM_001321962.2:c.*200A>C
NP_001308891.1:n.*200A>C
NM_001321963.2:c.*200A>C
NP_001308892.1:n.*200A>C
NM_001321964.2:c.*200A>C
NP_001308893.1:n.*200A>C
NM_001321965.2:c.*200A>C
NP_001308894.1:n.*200A>C
NM_001321966.2:c.*200A>C
NP_001308895.1:n.*200A>C
NR_073525.3:n.1753A>C
NR_135905.2:n.1742A>C
NR_135906.2:n.1183A>C
NR_135907.2:n.1429A>C
NR_135908.2:n.1123A>C
NR_135909.2:n.1639A>C
NR_135910.2:n.1989A>C
NR_135911.2:n.2109A>C
NR_135912.2:n.2668A>C
NR_135913.2:n.2355A>C