HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43162993T>G , CM000684.2:g.43162993T>G | GRCh38 |
NC_000022.10:g.43558999T>G , CM000684.1:g.43558999T>G | GRCh37 |
NC_000022.9:g.41888943T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000337554.8:c.*2T>G MANE Select | ENSP00000338004.3:n.*2T>G | |
ENST00000329563.8:c.*2T>G | ENSP00000328973.4:n.*2T>G | |
ENST00000337554.7:c.*2T>G | ENSP00000338004.3:n.*2T>G | |
ENST00000396265.4:c.*2T>G | ENSP00000379563.4:n.*2T>G | |
ENST00000583777.5:c.*2T>G | ENSP00000463495.1:n.*2T>G | |
NM_000714.5:c.*2T>G | NP_000705.2:n.*2T>G | |
NM_001256530.1:c.*2T>G | NP_001243459.1:n.*2T>G | |
NM_001256531.1:c.*2T>G | NP_001243460.1:n.*2T>G | |
NR_046308.1:n.421T>G | ||
NM_000714.6:c.*2T>G MANE Select | NP_000705.2:n.*2T>G | |
NR_046308.2:n.376T>G |