HGVS | Genome Assembly |
---|---|
NC_000002.12:g.31348764T>C , CM000664.2:g.31348764T>C | GRCh38 |
NC_000002.11:g.31571630T>C , CM000664.1:g.31571630T>C | GRCh37 |
NC_000002.10:g.31425134T>C | NCBI36 |
NG_008871.1:g.70982A>G | |
NG_008871.2:g.70982A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379416.4:c.3051+135A>G MANE Select | ENSP00000368727.3:n.3051+135A>G | |
ENST00000379416.3:c.3051+135A>G | ENSP00000368727.3:n.3051+135A>G | |
NM_000379.3:c.3051+135A>G | NP_000370.2:n.3051+135A>G | |
XM_011533095.1:c.3048+135A>G | XP_011531397.1:n.3048+135A>G | |
XM_011533096.1:c.3051+135A>G | XP_011531398.1:n.3051+135A>G | |
XM_011533095.2:c.3048+135A>G | XP_011531397.1:n.3048+135A>G | |
XM_011533096.2:c.3051+135A>G | XP_011531398.1:n.3051+135A>G | |
NM_000379.4:c.3051+135A>G MANE Select | NP_000370.2:n.3051+135A>G |