HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7525090A>T , CM000681.2:g.7525090A>T | GRCh38 |
NC_000019.9:g.7589976A>T , CM000681.1:g.7589976A>T | GRCh37 |
NC_000019.8:g.7495976A>T | NCBI36 |
NG_015806.1:g.7481A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.161A>T MANE Select | ENSP00000264079.5:p.Asp54Val | |
ENST00000264079.10:c.161A>T | ENSP00000264079.5:p.Asp54Val | |
ENST00000394321.9:n.241A>T | ||
ENST00000596390.1:n.277A>T | ||
ENST00000601003.1:c.161A>T | ENSP00000469074.1:p.Asp54Val | |
NM_020533.2:c.161A>T | NP_065394.1:p.Asp54Val | |
NM_020533.3:c.161A>T MANE Select | NP_065394.1:p.Asp54Val |