HGVS | Genome Assembly |
---|---|
NC_000018.10:g.77268554T>G , CM000680.2:g.77268554T>G | GRCh38 |
NC_000018.9:g.74980510T>G , CM000680.1:g.74980510T>G | GRCh37 |
NC_000018.8:g.73109498T>G | NCBI36 |
NG_009223.1:g.23503T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299727.5:c.733-31T>G MANE Select | ENSP00000299727.3:n.733-31T>G | |
ENST00000299727.4:c.733-31T>G | ENSP00000299727.3:n.733-31T>G | |
NM_001480.3:c.733-31T>G | NP_001471.2:n.733-31T>G | |
NM_001480.4:c.733-31T>G MANE Select | NP_001471.2:n.733-31T>G |