HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135031331A= , CM000667.2:g.135031331A= | GRCh38 |
NC_000005.9:g.134367021A= , CM000667.1:g.134367021A= | GRCh37 |
NC_000005.8:g.134394920A= | NCBI36 |
NG_012114.1:g.7944T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265340.12:c.347T= MANE Select | ENSP00000265340.6:p.Met116= | |
ENST00000265340.11:c.347T= | ENSP00000265340.6:p.Met116= | |
ENST00000503586.1:c.469T= | ||
ENST00000504936.1:n.680T= | ||
ENST00000506438.5:c.347T= | ENSP00000427542.1:p.Met116= | |
ENST00000507253.5:c.347T= | ENSP00000422908.1:p.Met116= | |
NM_002653.4:c.347T= | NP_002644.4:p.Met116= | |
NM_002653.5:c.347T= MANE Select | NP_002644.4:p.Met116= |