HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40099247C>T , CM000679.2:g.40099247C>T | GRCh38 |
NC_000017.10:g.38255500C>T , CM000679.1:g.38255500C>T | GRCh37 |
NC_000017.9:g.35509026C>T | NCBI36 |
NG_033084.1:g.6479G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000246672.4:c.31+817G>A MANE Select | ENSP00000246672.3:n.31+817G>A | |
ENST00000246672.3:c.31+817G>A | ENSP00000246672.3:n.31+817G>A | |
NM_021724.4:c.31+817G>A | NP_068370.1:n.31+817G>A | |
NM_021724.5:c.31+817G>A MANE Select | NP_068370.1:n.31+817G>A |