HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116822657A>C , CM000673.2:g.116822657A>C | GRCh38 |
NC_000011.9:g.116693373A>C , CM000673.1:g.116693373A>C | GRCh37 |
NC_000011.8:g.116198583A>C | NCBI36 |
NG_012044.1:g.5639T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357780.5:c.176+2T>G MANE Select | ENSP00000350425.3:n.176+2T>G | |
ENST00000357780.4:c.176+2T>G | ENSP00000350425.3:n.176+2T>G | |
NM_000482.3:c.176+2T>G | NP_000473.2:n.176+2T>G | |
NM_000482.4:c.176+2T>G MANE Select | NP_000473.2:n.176+2T>G |