HGVS | Genome Assembly |
---|---|
NC_000002.12:g.188994285C>A , CM000664.2:g.188994285C>A | GRCh38 |
NC_000002.11:g.189859011C>A , CM000664.1:g.189859011C>A | GRCh37 |
NC_000002.10:g.189567256C>A | NCBI36 |
NG_007404.1:g.24913C>A , LRG_3:g.24913C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.1147C>A | ENSP00000415346.2:p.Pro383Thr | |
ENST00000304636.9:c.1246C>A MANE Select | ENSP00000304408.4:p.Pro416Thr | |
ENST00000304636.7:c.1246C>A | ENSP00000304408.3:p.Pro416Thr | |
ENST00000317840.9:c.1246C>A | ENSP00000315243.6:p.Pro416Thr | |
ENST00000450867.1:c.245C>A | ||
NM_000090.3:c.1246C>A , LRG_3t1:c.1246C>A | NP_000081.1:p.Pro416Thr | |
NM_000090.4:c.1246C>A MANE Select | NP_000081.2:p.Pro416Thr |