×
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_000024.10:g.7070789G>C , CM000686.2:g.7070789G>C
GRCh38
NC_000024.9:g.6938830G>C , CM000686.1:g.6938830G>C
GRCh37
NC_000024.8:g.6998830G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000383032.6:c.660G>C
MANE Select
ENSP00000372499.1:p.Val220=
ENST00000346432.3:c.660G>C
ENSP00000328879.4:p.Val220=
ENST00000355162.6:c.660G>C
ENSP00000347289.2:p.Val220=
ENST00000383032.5:c.660G>C
ENSP00000372499.1:p.Val220=
NM_033284.1:c.660G>C
NP_150600.1:p.Val220=
NM_134258.1:c.660G>C
NP_599020.1:p.Val220=
NM_134259.1:c.660G>C
NP_599021.1:p.Val220=
XM_005262572.2:c.702G>C
XP_005262629.1:p.Val234=
XM_005262572.3:c.702G>C
XP_005262629.1:p.Val234=
XM_017030086.1:c.660G>C
XP_016885575.1:p.Val220=
XM_017030087.1:c.660G>C
XP_016885576.1:p.Val220=
XM_024452497.1:c.660G>C
XP_024308265.1:p.Val220=
NM_033284.2:c.660G>C
MANE Select
NP_150600.1:p.Val220=
NM_134258.2:c.660G>C
NP_599020.1:p.Val220=
NM_134259.2:c.660G>C
NP_599021.1:p.Val220=