HGVS | Genome Assembly |
---|---|
NC_000003.12:g.37475980G>C , CM000665.2:g.37475980G>C | GRCh38 |
NC_000003.11:g.37517471G>C , CM000665.1:g.37517471G>C | GRCh37 |
NC_000003.10:g.37492475G>C | NCBI36 |
NG_016166.1:g.28659G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264741.10:c.420+2520G>C MANE Select | ENSP00000264741.5:n.420+2520G>C | |
ENST00000264741.9:c.420+2520G>C | ENSP00000264741.5:n.420+2520G>C | |
ENST00000422441.5:c.420+2520G>C | ENSP00000397258.1:n.420+2520G>C | |
NM_002207.2:c.420+2520G>C | NP_002198.2:n.420+2520G>C | |
NM_002207.3:c.420+2520G>C MANE Select | NP_002198.2:n.420+2520G>C |