HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47574238C>A , CM000685.2:g.47574238C>A | GRCh38 |
NC_000023.10:g.47433637C>A , CM000685.1:g.47433637C>A | GRCh37 |
NC_000023.9:g.47318581C>A | NCBI36 |
NG_008437.1:g.50620G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.1746G>T MANE Select | ENSP00000295987.7:p.Pro582= | |
ENST00000340666.5:c.1746G>T | ENSP00000343206.4:p.Pro582= | |
ENST00000640721.1:c.70+450G>T | ENSP00000492857.1:n.70+450G>T | |
ENST00000295987.11:c.1746G>T | ENSP00000295987.7:p.Pro582= | |
ENST00000340666.4:c.1746G>T | ENSP00000343206.4:p.Pro582= | |
NM_006950.3:c.1746G>T MANE Select | NP_008881.2:p.Pro582= | |
NM_133499.2:c.1746G>T | NP_598006.1:p.Pro582= |