HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133644437T= , CM000671.2:g.133644437T= | GRCh38 |
NC_000009.11:g.136509559T= , CM000671.1:g.136509559T= | GRCh37 |
NC_000009.10:g.135499380T= | NCBI36 |
NG_008645.1:g.13075T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393056.8:c.1024+117T= MANE Select | ENSP00000376776.2:n.1024+117T= | |
ENST00000393056.6:c.1024+117T= | ENSP00000376776.2:n.1024+117T= | |
NM_000787.3:c.1024+117T= | NP_000778.3:n.1024+117T= | |
NM_000787.4:c.1024+117T= MANE Select | NP_000778.3:n.1024+117T= |