HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044966T>G , CM000674.2:g.5044966T>G | GRCh38 |
NC_000012.11:g.5154132T>G , CM000674.1:g.5154132T>G | GRCh37 |
NC_000012.10:g.5024393T>G | NCBI36 |
NG_012198.1:g.6048T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.819T>G MANE Select | ENSP00000252321.3:p.Pro273= | |
ENST00000252321.4:c.819T>G | ENSP00000252321.3:p.Pro273= | |
NM_002234.3:c.819T>G | NP_002225.2:p.Pro273= | |
NM_002234.4:c.819T>G MANE Select | NP_002225.2:p.Pro273= |