HGVS | Genome Assembly |
---|---|
NC_000004.12:g.57073635T>C , CM000666.2:g.57073635T>C | GRCh38 |
NC_000004.11:g.57939801T>C , CM000666.1:g.57939801T>C | GRCh37 |
NC_000004.10:g.57634558T>C | NCBI36 |
NG_031877.1:g.41751A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295666.6:c.476-32702A>G MANE Select | ENSP00000295666.4:n.476-32702A>G | |
ENST00000514062.2:c.476-32702A>G | ENSP00000486293.1:n.476-32702A>G | |
NM_001253835.1:c.476-32702A>G | NP_001240764.1:n.476-32702A>G | |
NM_001553.2:c.476-32702A>G | NP_001544.1:n.476-32702A>G | |
NM_001553.3:c.476-32702A>G MANE Select | NP_001544.1:n.476-32702A>G | |
NM_001253835.2:c.476-32702A>G | NP_001240764.1:n.476-32702A>G |