HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86575878T>A , CM000670.2:g.86575878T>A | GRCh38 |
NC_000008.10:g.87588106T>A , CM000670.1:g.87588106T>A | GRCh37 |
NC_000008.9:g.87657222T>A | NCBI36 |
NG_016980.1:g.172798A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320005.6:c.2356A>T MANE Select | ENSP00000316605.5:p.Ile786Phe | |
ENST00000681546.1:n.2176A>T | ||
ENST00000681746.1:c.*767A>T | ENSP00000505959.1:n.*767A>T | |
ENST00000320005.5:c.2356A>T | ENSP00000316605.5:p.Ile786Phe | |
ENST00000517327.5:c.276+2811A>T | ENSP00000428329.1:n.276+2811A>T | |
NM_019098.4:c.2356A>T | NP_061971.3:p.Ile786Phe | |
XM_011517138.1:c.1942A>T | XP_011515440.1:p.Ile648Phe | |
XM_011517138.2:c.1942A>T | XP_011515440.1:p.Ile648Phe | |
NM_019098.5:c.2356A>T MANE Select | NP_061971.3:p.Ile786Phe |