HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133644425T>G , CM000671.2:g.133644425T>G | GRCh38 |
NC_000009.11:g.136509547T>G , CM000671.1:g.136509547T>G | GRCh37 |
NC_000009.10:g.135499368T>G | NCBI36 |
NG_008645.1:g.13063T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000393056.8:c.1024+105T>G MANE Select | ENSP00000376776.2:n.1024+105T>G | |
ENST00000393056.6:c.1024+105T>G | ENSP00000376776.2:n.1024+105T>G | |
NM_000787.3:c.1024+105T>G | NP_000778.3:n.1024+105T>G | |
NM_000787.4:c.1024+105T>G MANE Select | NP_000778.3:n.1024+105T>G |