HGVS | Genome Assembly |
---|---|
NC_000012.12:g.312268T= , CM000674.2:g.312268T= | GRCh38 |
NC_000012.11:g.421434T= , CM000674.1:g.421434T= | GRCh37 |
NC_000012.10:g.291695T= | NCBI36 |
NG_046993.1:g.82188A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399788.7:c.3036+788A= MANE Select | ENSP00000382688.2:n.3036+788A= | |
ENST00000382815.8:c.3036+788A= | ENSP00000372265.5:n.3036+788A= | |
ENST00000399788.6:c.3036+788A= | ENSP00000382688.2:n.3036+788A= | |
ENST00000544760.1:c.1893+788A= | ENSP00000440622.1:n.1893+788A= | |
NM_001042603.2:c.3036+788A= | NP_001036068.1:n.3036+788A= | |
NM_001042603.3:c.3036+788A= MANE Select | NP_001036068.1:n.3036+788A= |