HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50915821T>G , CM000685.2:g.50915821T>G | GRCh38 |
NC_000023.10:g.50658821T>G , CM000685.1:g.50658821T>G | GRCh37 |
NC_000023.9:g.50675561T>G | NCBI36 |
NG_012894.1:g.10038T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.393T>G MANE Select | ENSP00000252677.3:p.Val131= | |
ENST00000252677.3:c.393T>G | ENSP00000252677.3:p.Val131= | |
NM_005448.2:c.393T>G MANE Select | NP_005439.2:p.Val131= |