HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86670614A>C , CM000670.2:g.86670614A>C | GRCh38 |
NC_000008.10:g.87682842A>C , CM000670.1:g.87682842A>C | GRCh37 |
NC_000008.9:g.87751958A>C | NCBI36 |
NG_016980.1:g.78062T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.493+330T>G MANE Select | ENSP00000316605.5:n.493+330T>G | |
ENST00000680314.1:n.254+330T>G | ||
ENST00000681746.1:c.493+330T>G | ENSP00000505959.1:n.493+330T>G | |
ENST00000320005.5:c.493+330T>G | ENSP00000316605.5:n.493+330T>G | |
NM_019098.4:c.493+330T>G | NP_061971.3:n.493+330T>G | |
XM_011517138.1:c.79+330T>G | XP_011515440.1:n.79+330T>G | |
XM_011517138.2:c.79+330T>G | XP_011515440.1:n.79+330T>G | |
NM_019098.5:c.493+330T>G MANE Select | NP_061971.3:n.493+330T>G |