HGVS | Genome Assembly |
---|---|
NC_000008.11:g.72866066A>G , CM000670.2:g.72866066A>G | GRCh38 |
NC_000008.10:g.73778301A>G , CM000670.1:g.73778301A>G | GRCh37 |
NC_000008.9:g.73940855A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000523207.2:c.580-69869A>G MANE Select | ENSP00000430846.1:n.580-69869A>G | |
ENST00000523207.1:c.580-69869A>G | ENSP00000430846.1:n.580-69869A>G | |
NM_004770.2:c.580-69869A>G | NP_004761.2:n.580-69869A>G | |
XM_017013981.1:c.-157+2362A>G | XP_016869470.1:n.-157+2362A>G | |
XR_001745620.1:n.1141-69869A>G | ||
XR_001745621.1:n.1141-69869A>G | ||
NM_004770.3:c.580-69869A>G MANE Select | NP_004761.2:n.580-69869A>G |