HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78123285C>A , CM000685.2:g.78123285C>A | GRCh38 |
NC_000023.10:g.77378782C>A , CM000685.1:g.77378782C>A | GRCh37 |
NC_000023.9:g.77265438C>A | NCBI36 |
NG_008862.1:g.24117C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373316.5:c.847C>A MANE Select | ENSP00000362413.4:p.Pro283Thr | |
ENST00000644362.1:c.763C>A | ENSP00000496140.1:p.Pro255Thr | |
ENST00000373316.4:c.847C>A | ENSP00000362413.4:p.Pro283Thr | |
ENST00000474281.1:n.254C>A | ||
NM_000291.3:c.847C>A | NP_000282.1:p.Pro283Thr | |
NM_000291.4:c.847C>A MANE Select | NP_000282.1:p.Pro283Thr |