HGVS | Genome Assembly |
---|---|
NC_000002.12:g.184915133T>C , CM000664.2:g.184915133T>C | GRCh38 |
NC_000002.11:g.185779860T>C , CM000664.1:g.185779860T>C | GRCh37 |
NC_000002.10:g.185488105T>C | NCBI36 |
NG_046950.1:g.321768T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000302277.7:c.256-18470T>C MANE Select | ENSP00000303252.6:n.256-18470T>C | |
ENST00000302277.6:c.256-18470T>C | ENSP00000303252.6:n.256-18470T>C | |
ENST00000613975.1:c.1-18470T>C | ENSP00000483032.1:n.1-18470T>C | |
NM_194250.1:c.256-18470T>C | NP_919226.1:n.256-18470T>C | |
NM_194250.2:c.256-18470T>C MANE Select | NP_919226.1:n.256-18470T>C |