HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816517A>C , CM000681.2:g.4816517A>C | GRCh38 |
NC_000019.9:g.4816529A>C , CM000681.1:g.4816529A>C | GRCh37 |
NC_000019.8:g.4767529A>C | NCBI36 |
NG_031998.1:g.20226T>G , LRG_358:g.20226T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1861T>G MANE Select | ENSP00000248244.4:p.Phe621Val | |
ENST00000248244.5:c.1861T>G | ENSP00000248244.4:p.Phe621Val | |
ENST00000621756.1:c.1444T>G | ENSP00000479467.1:p.Phe482Val | |
NM_182919.3:c.1861T>G , LRG_358t1:c.1861T>G | NP_891549.1:p.Phe621Val | |
NM_001385678.1:c.1819T>G | NP_001372607.1:p.Phe607Val | |
NM_001385679.1:c.1726T>G | NP_001372608.1:p.Phe576Val | |
NM_001385680.1:c.1219T>G | NP_001372609.1:p.Phe407Val | |
NM_182919.4:c.1861T>G MANE Select | NP_891549.1:p.Phe621Val |