HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72122679T>G , CM000679.2:g.72122679T>G | GRCh38 |
NC_000017.10:g.70118820T>G , CM000679.1:g.70118820T>G | GRCh37 |
NC_000017.9:g.67630415T>G | NCBI36 |
NG_012490.1:g.6660T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.432-40T>G MANE Select | ENSP00000245479.2:n.432-40T>G | |
ENST00000245479.2:c.432-40T>G | ENSP00000245479.2:n.432-40T>G | |
NM_000346.3:c.432-40T>G | NP_000337.1:n.432-40T>G | |
NM_000346.4:c.432-40T>G MANE Select | NP_000337.1:n.432-40T>G |