HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116822653T>C , CM000673.2:g.116822653T>C | GRCh38 |
NC_000011.9:g.116693369T>C , CM000673.1:g.116693369T>C | GRCh37 |
NC_000011.8:g.116198579T>C | NCBI36 |
NG_012044.1:g.5643A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000357780.5:c.176+6A>G MANE Select | ENSP00000350425.3:n.176+6A>G | |
ENST00000357780.4:c.176+6A>G | ENSP00000350425.3:n.176+6A>G | |
NM_000482.3:c.176+6A>G | NP_000473.2:n.176+6A>G | |
NM_000482.4:c.176+6A>G MANE Select | NP_000473.2:n.176+6A>G |