×
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_000019.10:g.35908234C= , CM000681.2:g.35908234C=
GRCh38
NC_000019.9:g.36399136C= , CM000681.1:g.36399136C=
GRCh37
NC_000019.8:g.41090976C=
NCBI36
NG_009304.1:g.5051G= , LRG_607:g.5051G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262629.9:c.-6G=
MANE Select
ENSP00000262629.3:n.-6G=
ENST00000262629.8:c.-6G=
ENSP00000262629.3:n.-6G=
ENST00000424586.7:c.-6G=
ENSP00000402371.3:n.-6G=
ENST00000544690.6:c.-6G=
ENSP00000445332.1:n.-6G=
ENST00000585626.1:n.62G=
ENST00000585901.6:c.-6G=
ENSP00000468608.1:n.-6G=
ENST00000586946.1:c.-6G=
ENSP00000465656.1:n.-6G=
ENST00000587837.5:c.-6G=
ENSP00000465081.1:n.-6G=
ENST00000589517.1:c.-6G=
ENSP00000468447.1:n.-6G=
NM_001173514.1:c.-6G=
NP_001166985.1:n.-6G=
NM_001173515.1:c.-6G=
NP_001166986.1:n.-6G=
NM_003332.3:c.-6G= , LRG_607t1:c.-6G=
NP_003323.1:n.-6G=
NM_198125.2:c.-6G=
NP_937758.1:n.-6G=
NR_033390.1:n.76G=
NM_001173514.2:c.-6G=
NP_001166985.1:n.-6G=
NM_001173515.2:c.-6G=
NP_001166986.1:n.-6G=
NM_003332.4:c.-6G=
MANE Select
NP_003323.1:n.-6G=
NM_198125.3:c.-6G=
NP_937758.1:n.-6G=
NR_033390.2:n.62G=