HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6714041A>G , CM000681.2:g.6714041A>G | GRCh38 |
NC_000019.9:g.6714052A>G , CM000681.1:g.6714052A>G | GRCh37 |
NC_000019.8:g.6665052A>G | NCBI36 |
NG_009557.1:g.11611T>C , LRG_27:g.11611T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.601T>C | ENSP00000512083.1:p.Phe201Leu | |
ENST00000245907.11:c.724T>C MANE Select | ENSP00000245907.4:p.Phe242Leu | |
ENST00000245907.10:c.724T>C | ENSP00000245907.4:p.Phe242Leu | |
ENST00000595577.1:n.228T>C | ||
NM_000064.3:c.724T>C | NP_000055.2:p.Phe242Leu | |
NM_000064.4:c.724T>C MANE Select | NP_000055.2:p.Phe242Leu |