HGVS | Genome Assembly |
---|---|
NC_000002.12:g.5692895A>C , CM000664.2:g.5692895A>C | GRCh38 |
NC_000002.11:g.5833027A>C , CM000664.1:g.5833027A>C | GRCh37 |
NC_000002.10:g.5750478A>C | NCBI36 |
NG_050751.1:g.5229A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000322002.5:c.174A>C MANE Select | ENSP00000322568.3:p.Val58= | |
ENST00000322002.4:c.174A>C | ENSP00000322568.3:p.Val58= | |
NM_003108.3:c.174A>C | NP_003099.1:p.Val58= | |
NM_003108.4:c.174A>C MANE Select | NP_003099.1:p.Val58= |