HGVS | Genome Assembly |
---|---|
NC_000020.11:g.19383335T>C , CM000682.2:g.19383335T>C | GRCh38 |
NC_000020.10:g.19363979T>C , CM000682.1:g.19363979T>C | GRCh37 |
NC_000020.9:g.19311979T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000328041.11:c.271+102248T>C MANE Select | ENSP00000333519.5:n.271+102248T>C | |
ENST00000328041.10:c.271+102248T>C | ENSP00000333519.5:n.271+102248T>C | |
ENST00000613834.1:c.271+28194T>C | ENSP00000482967.1:n.271+28194T>C | |
NM_020689.3:c.271+102248T>C | NP_065740.2:n.271+102248T>C | |
NM_020689.4:c.271+102248T>C MANE Select | NP_065740.2:n.271+102248T>C |