HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23200719C>A , CM000670.2:g.23200719C>A | GRCh38 |
NC_000008.10:g.23058232C>A , CM000670.1:g.23058232C>A | GRCh37 |
NC_000008.9:g.23114177C>A | NCBI36 |
NG_032107.1:g.29449G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221132.8:c.671G>T MANE Select | ENSP00000221132.3:p.Trp224Leu | |
ENST00000221132.7:c.671G>T | ENSP00000221132.3:p.Trp224Leu | |
ENST00000524158.5:c.65G>T | ENSP00000428884.1:p.Trp22Leu | |
ENST00000613472.1:c.197G>T | ENSP00000480778.1:p.Trp66Leu | |
NM_003844.3:c.671G>T | NP_003835.3:p.Trp224Leu | |
NM_003844.4:c.671G>T MANE Select | NP_003835.3:p.Trp224Leu |