HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86647872T>A , CM000670.2:g.86647872T>A | GRCh38 |
NC_000008.10:g.87660100T>A , CM000670.1:g.87660100T>A | GRCh37 |
NC_000008.9:g.87729216T>A | NCBI36 |
NG_016980.1:g.100804A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320005.6:c.919A>T MANE Select | ENSP00000316605.5:p.Ile307Leu | |
ENST00000681546.1:n.739A>T | ||
ENST00000681746.1:c.919A>T | ENSP00000505959.1:p.Ile307Leu | |
ENST00000320005.5:c.919A>T | ENSP00000316605.5:p.Ile307Leu | |
NM_019098.4:c.919A>T | NP_061971.3:p.Ile307Leu | |
XM_011517138.1:c.505A>T | XP_011515440.1:p.Ile169Leu | |
XM_011517138.2:c.505A>T | XP_011515440.1:p.Ile169Leu | |
NM_019098.5:c.919A>T MANE Select | NP_061971.3:p.Ile307Leu |