HGVS | Genome Assembly |
---|---|
NC_000009.12:g.5468243C>A , CM000671.2:g.5468243C>A | GRCh38 |
NC_000009.11:g.5468243C>A , CM000671.1:g.5468243C>A | GRCh37 |
NC_000009.10:g.5458243C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381577.4:c.*381C>A MANE Select | ENSP00000370989.3:n.*381C>A | |
ENST00000381573.8:c.*381C>A | ENSP00000370985.4:n.*381C>A | |
ENST00000381577.3:c.*381C>A | ENSP00000370989.3:n.*381C>A | |
NM_001267706.1:c.*381C>A | NP_001254635.1:n.*381C>A | |
NM_014143.3:c.*381C>A | NP_054862.1:n.*381C>A | |
NR_052005.1:n.1189C>A | ||
NM_014143.4:c.*381C>A MANE Select | NP_054862.1:n.*381C>A | |
NR_052005.2:n.1150C>A | ||
NM_001267706.2:c.*381C>A | NP_001254635.1:n.*381C>A |