HGVS | Genome Assembly |
---|---|
NC_000023.11:g.18671871T>C , CM000685.2:g.18671871T>C | GRCh38 |
NC_000023.10:g.18689991T>C , CM000685.1:g.18689991T>C | GRCh37 |
NC_000023.9:g.18599912T>C | NCBI36 |
NG_008659.3:g.10578A>G , LRG_702:g.10578A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379984.4:c.52+146A>G MANE Select | ENSP00000369320.3:n.52+146A>G | |
ENST00000379984.3:c.52+146A>G | ENSP00000369320.3:n.52+146A>G | |
NM_000330.3:c.52+146A>G , LRG_702t1:c.52+146A>G | NP_000321.1:n.52+146A>G | |
NM_000330.4:c.52+146A>G MANE Select | NP_000321.1:n.52+146A>G |