×
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_000017.11:g.8204736A>G , CM000679.2:g.8204736A>G
GRCh38
NC_000017.10:g.8108054A>G , CM000679.1:g.8108054A>G
GRCh37
NC_000017.9:g.8048779A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000585124.6:c.*135T>C
MANE Select
ENSP00000463999.1:n.*135T>C
ENST00000316199.10:c.*135T>C
ENSP00000313950.6:n.*135T>C
NM_001256834.1:c.*135T>C
NP_001243763.1:n.*135T>C
NM_001256834.2:c.*135T>C
NP_001243763.1:n.*135T>C
NM_001284526.1:c.*135T>C
NP_001271455.1:n.*135T>C
NM_001313950.1:c.*135T>C
NP_001300879.1:n.*135T>C
NM_001313951.1:c.*135T>C
NP_001300880.1:n.*135T>C
NM_001313952.1:c.*135T>C
NP_001300881.1:n.*135T>C
NM_001313953.1:c.*135T>C
NP_001300882.1:n.*135T>C
NM_001313954.1:c.*135T>C
NP_001300883.1:n.*135T>C
NM_001313955.1:c.*135T>C
NP_001300884.1:n.*135T>C
NM_004217.3:c.*135T>C
NP_004208.2:n.*135T>C
NR_132730.1:n.1150T>C
NR_132731.1:n.1035T>C
XM_011524070.1:c.*135T>C
XP_011522372.1:n.*135T>C
XM_011524072.1:c.*135T>C
XP_011522374.1:n.*135T>C
NM_001313953.2:c.*135T>C
NP_001300882.1:n.*135T>C
XM_017025307.2:c.*135T>C
XP_016880796.1:n.*135T>C
NM_004217.4:c.*135T>C
MANE Select
NP_004208.2:n.*135T>C
NM_001256834.3:c.*135T>C
NP_001243763.1:n.*135T>C
NM_001284526.2:c.*135T>C
NP_001271455.1:n.*135T>C
NM_001313950.2:c.*135T>C
NP_001300879.1:n.*135T>C
NM_001313952.2:c.*135T>C
NP_001300881.1:n.*135T>C
NM_001313953.3:c.*135T>C
NP_001300882.1:n.*135T>C
NM_001313954.2:c.*135T>C
NP_001300883.1:n.*135T>C
NM_001313955.2:c.*135T>C
NP_001300884.1:n.*135T>C
NR_132730.2:n.1099T>C