HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135943422T= , CM000664.2:g.135943422T= | GRCh38 |
NC_000002.11:g.136700992T= , CM000664.1:g.136700992T= | GRCh37 |
NC_000002.10:g.136417462T= | NCBI36 |
NG_034149.1:g.47263A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264161.9:c.379A= MANE Select | ENSP00000264161.4:p.Ile127= | |
ENST00000264161.8:c.379A= | ENSP00000264161.4:p.Ile127= | |
ENST00000435076.1:c.474A= | ||
ENST00000441323.5:c.280A= | ENSP00000389867.1:p.Ile94= | |
ENST00000449218.5:c.280A= | ENSP00000388801.1:p.Ile94= | |
ENST00000456565.5:c.280A= | ENSP00000397616.1:p.Ile94= | |
ENST00000463008.1:n.376A= | ||
NM_001293312.1:c.79A= | NP_001280241.1:p.Ile27= | |
NM_001349.3:c.379A= | NP_001340.2:p.Ile127= | |
NM_001349.4:c.379A= MANE Select | NP_001340.2:p.Ile127= |