HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128395196A= , CM000667.2:g.128395196A= | GRCh38 |
NC_000005.9:g.127730889A= , CM000667.1:g.127730889A= | GRCh37 |
NC_000005.8:g.127758788A= | NCBI36 |
NG_008750.1:g.147847T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703787.1:n.864T= | ||
ENST00000262464.9:c.1157T= MANE Select | ENSP00000262464.4:p.Met386= | |
ENST00000262464.8:c.1157T= | ENSP00000262464.4:p.Met386= | |
ENST00000508053.5:c.1157T= | ENSP00000424571.1:p.Met386= | |
ENST00000508989.5:c.1058T= | ENSP00000425596.1:p.Met353= | |
ENST00000619499.4:c.1154T= | ENSP00000482132.1:p.Met385= | |
NM_001999.3:c.1157T= | NP_001990.2:p.Met386= | |
XM_017009228.2:c.1079-1828T= | XP_016864717.1:n.1079-1828T= | |
NM_001999.4:c.1157T= MANE Select | NP_001990.2:p.Met386= |