HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814272A>T , CM000668.2:g.32814272A>T | GRCh38 |
NC_000006.11:g.32782049A>T , CM000668.1:g.32782049A>T | GRCh37 |
NC_000006.10:g.32890027A>T | NCBI36 |
NG_009793.3:g.29499T>A | |
NG_012008.1:g.7777T>A | |
NG_009793.4:g.29499T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.643+48T>A MANE Select | ENSP00000390020.2:n.643+48T>A | |
ENST00000648009.1:c.643+48T>A | ENSP00000496848.1:n.643+48T>A | |
ENST00000438763.6:c.643+48T>A | ENSP00000390020.2:n.643+48T>A | |
ENST00000452392.2:c.2464+48T>A | ENSP00000391806.2:n.2464+48T>A | |
ENST00000475235.1:n.728T>A | ||
ENST00000488325.5:c.*414+48T>A | ENSP00000436618.1:n.*414+48T>A | |
NM_002120.3:c.643+48T>A | NP_002111.1:n.643+48T>A | |
NM_002120.4:c.643+48T>A MANE Select | NP_002111.1:n.643+48T>A |