HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37965949del , CM000670.2:g.37965949del | GRCh38 |
NC_000008.10:g.37823467del , CM000670.1:g.37823467del | GRCh37 |
NC_000008.9:g.37942624del | NCBI36 |
NG_011936.1:g.5718del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345060.5:c.521del MANE Select | ENSP00000343782.3:p.Met174ArgfsTer7 | |
ENST00000520341.2:n.649del | ||
ENST00000647937.1:c.5del | ENSP00000497740.1:p.Met2ArgfsTer7 | |
ENST00000345060.4:c.521del | ENSP00000343782.3:p.Met174ArgfsTer7 | |
ENST00000614635.1:c.521del | ENSP00000480325.1:p.Met174ArgfsTer7 | |
NM_000025.2:c.521del | NP_000016.1:p.Met174ArgfsTer7 | |
NM_000025.3:c.521del MANE Select | NP_000016.1:p.Met174ArgfsTer7 |