HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136659344G>T , CM000685.2:g.136659344G>T | GRCh38 |
NC_000023.10:g.135741503G>T , CM000685.1:g.135741503G>T | GRCh37 |
NC_000023.9:g.135569169G>T | NCBI36 |
NG_007280.1:g.16168G>T , LRG_141:g.16168G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695724.1:c.*333G>T | ENSP00000512122.1:n.*333G>T | |
ENST00000695725.1:c.*270G>T | ENSP00000512123.1:n.*270G>T | |
ENST00000695726.1:n.2683G>T | ||
ENST00000695729.1:n.3518G>T | ||
ENST00000370629.7:c.715G>T MANE Select | ENSP00000359663.2:p.Val239Phe | |
ENST00000370628.2:c.652G>T | ENSP00000359662.2:p.Val218Phe | |
ENST00000370629.6:c.715G>T | ENSP00000359663.2:p.Val239Phe | |
NM_000074.2:c.715G>T , LRG_141t1:c.715G>T | NP_000065.1:p.Val239Phe | |
NM_000074.3:c.715G>T MANE Select | NP_000065.1:p.Val239Phe |