HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832924G>C , CM000673.2:g.116832924G>C | GRCh38 |
NC_000011.9:g.116703640G>C , CM000673.1:g.116703640G>C | GRCh37 |
NC_000011.8:g.116208850G>C | NCBI36 |
NG_008949.1:g.8017G>C |
HGVS | Amino-acid change | |
---|---|---|
NM_000040.1:c.*40G>C VV | NP_000031.1:p.= | |
NM_000040.2:c.*40G>C VV | NP_000031.1:p.= | |
NM_000040.3:c.*40G>C VV MANE Preferred | NP_000031.1:p.= | |
ENST00000227667.7:c.*40G>C | ENSP00000227667.2:p.= | |
ENST00000375345.3:c.*40G>C | ENSP00000364494.1:p.= | |
ENST00000630701.1:n.394G>C | ENSP00000486182.1:p.= |