HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40099264C>T , CM000679.2:g.40099264C>T | GRCh38 |
NC_000017.10:g.38255517C>T , CM000679.1:g.38255517C>T | GRCh37 |
NC_000017.9:g.35509043C>T | NCBI36 |
NG_033084.1:g.6462G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246672.4:c.31+800G>A MANE Select | ENSP00000246672.3:n.31+800G>A | |
ENST00000246672.3:c.31+800G>A | ENSP00000246672.3:n.31+800G>A | |
NM_021724.4:c.31+800G>A | NP_068370.1:n.31+800G>A | |
NM_021724.5:c.31+800G>A MANE Select | NP_068370.1:n.31+800G>A |