HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7445218G>T , CM000679.2:g.7445218G>T | GRCh38 |
NC_000017.10:g.7348537G>T , CM000679.1:g.7348537G>T | GRCh37 |
NC_000017.9:g.7289261G>T | NCBI36 |
NG_008026.1:g.5132G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306071.7:c.58+33G>T MANE Select | ENSP00000304290.2:n.58+33G>T | |
ENST00000306071.6:c.58+33G>T | ENSP00000304290.2:n.58+33G>T | |
ENST00000572857.5:c.58+33G>T | ENSP00000461402.1:n.58+33G>T | |
ENST00000574054.1:n.78+33G>T | ||
NM_000747.2:c.58+33G>T | NP_000738.2:n.58+33G>T | |
NM_000747.3:c.58+33G>T MANE Select | NP_000738.2:n.58+33G>T |