HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86671004G>T , CM000670.2:g.86671004G>T | GRCh38 |
NC_000008.10:g.87683232G>T , CM000670.1:g.87683232G>T | GRCh37 |
NC_000008.9:g.87752348G>T | NCBI36 |
NG_016980.1:g.77672C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.433C>A MANE Select | ENSP00000316605.5:p.Leu145Ile | |
ENST00000680314.1:n.194C>A | ||
ENST00000681746.1:c.433C>A | ENSP00000505959.1:p.Leu145Ile | |
ENST00000320005.5:c.433C>A | ENSP00000316605.5:p.Leu145Ile | |
NM_019098.4:c.433C>A | NP_061971.3:p.Leu145Ile | |
XM_011517138.1:c.19C>A | XP_011515440.1:p.Leu7Ile | |
XM_011517138.2:c.19C>A | XP_011515440.1:p.Leu7Ile | |
NM_019098.5:c.433C>A MANE Select | NP_061971.3:p.Leu145Ile |