HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189575114G= , CM000664.2:g.189575114G= | GRCh38 |
NC_000002.11:g.190439840G= , CM000664.1:g.190439840G= | GRCh37 |
NC_000002.10:g.190148085G= | NCBI36 |
NG_009027.1:g.10698C= , LRG_837:g.10698C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.271+47C= MANE Select | ENSP00000261024.3:n.271+47C= | |
ENST00000261024.6:c.271+47C= | ENSP00000261024.2:n.271+47C= | |
ENST00000427241.5:c.271+47C= | ENSP00000390005.1:n.271+47C= | |
ENST00000479598.5:n.552+47C= | ||
NM_014585.5:c.271+47C= , LRG_837t1:c.271+47C= | NP_055400.1:n.271+47C= | |
XM_005246505.1:c.151+47C= | XP_005246562.1:n.151+47C= | |
XM_005246505.2:c.151+47C= | XP_005246562.1:n.151+47C= | |
XM_017003938.2:c.151+47C= | XP_016859427.1:n.151+47C= | |
NM_014585.6:c.271+47C= MANE Select | NP_055400.1:n.271+47C= |