HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48476742C= , CM000675.2:g.48476742C= | GRCh38 |
NC_000013.10:g.49050878C= , CM000675.1:g.49050878C= | GRCh37 |
NC_000013.9:g.47948879C= | NCBI36 |
NG_009009.1:g.177996C= , LRG_517:g.177996C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.2562C= MANE Select | ENSP00000267163.4:p.Asn854= | |
ENST00000643064.1:c.194+95299C= | ||
ENST00000650461.1:c.2562C= | ENSP00000497193.1:p.Asn854= | |
ENST00000267163.4:c.2562C= | ENSP00000267163.4:p.Asn854= | |
ENST00000484879.1:n.296C= | ||
ENST00000531171.5:n.165C= | ||
NM_000321.2:c.2562C= , LRG_517t1:c.2562C= | NP_000312.2:p.Asn854= | |
XM_011535171.1:c.2301C= | XP_011533473.1:p.Asn767= | |
XM_011535171.2:c.2301C= | XP_011533473.1:p.Asn767= | |
NM_000321.3:c.2562C= MANE Select | NP_000312.2:p.Asn854= |