HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40099257C>G , CM000679.2:g.40099257C>G | GRCh38 |
NC_000017.10:g.38255510C>G , CM000679.1:g.38255510C>G | GRCh37 |
NC_000017.9:g.35509036C>G | NCBI36 |
NG_033084.1:g.6469G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246672.4:c.31+807G>C MANE Select | ENSP00000246672.3:n.31+807G>C | |
ENST00000246672.3:c.31+807G>C | ENSP00000246672.3:n.31+807G>C | |
NM_021724.4:c.31+807G>C | NP_068370.1:n.31+807G>C | |
NM_021724.5:c.31+807G>C MANE Select | NP_068370.1:n.31+807G>C |