HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46011018A>T , CM000682.2:g.46011018A>T | GRCh38 |
NC_000020.10:g.44639657A>T , CM000682.1:g.44639657A>T | GRCh37 |
NC_000020.9:g.44073064A>T | NCBI36 |
NG_011468.1:g.7111A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.617A>T MANE Select | ENSP00000361405.3:p.Asp206Val | |
NM_004994.2:c.617A>T | NP_004985.2:p.Asp206Val | |
NM_004994.3:c.617A>T MANE Select | NP_004985.2:p.Asp206Val |