HGVS | Genome Assembly |
---|---|
NC_000009.12:g.93954104A>G , CM000671.2:g.93954104A>G | GRCh38 |
NC_000009.11:g.96716386A>G , CM000671.1:g.96716386A>G | GRCh37 |
NC_000009.10:g.95756207A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253968.11:c.223+820T>C MANE Select | ENSP00000253968.5:n.223+820T>C | |
ENST00000253968.10:c.223+820T>C | ENSP00000253968.5:n.223+820T>C | |
NM_021570.3:c.223+820T>C | NP_067545.3:n.223+820T>C | |
NM_021570.4:c.223+820T>C MANE Select | NP_067545.3:n.223+820T>C |