HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816595T= , CM000681.2:g.4816595T= | GRCh38 |
NC_000019.9:g.4816607T= , CM000681.1:g.4816607T= | GRCh37 |
NC_000019.8:g.4767607T= | NCBI36 |
NG_031998.1:g.20148A= , LRG_358:g.20148A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1783A= MANE Select | ENSP00000248244.4:p.Met595= | |
ENST00000248244.5:c.1783A= | ENSP00000248244.4:p.Met595= | |
ENST00000621756.1:c.1366A= | ENSP00000479467.1:p.Met456= | |
NM_182919.3:c.1783A= , LRG_358t1:c.1783A= | NP_891549.1:p.Met595= | |
NM_001385678.1:c.1741A= | NP_001372607.1:p.Met581= | |
NM_001385679.1:c.1648A= | NP_001372608.1:p.Met550= | |
NM_001385680.1:c.1141A= | NP_001372609.1:p.Met381= | |
NM_182919.4:c.1783A= MANE Select | NP_891549.1:p.Met595= |