HGVS | Genome Assembly |
---|---|
NC_000006.12:g.39048844G>C , CM000668.2:g.39048844G>C | GRCh38 |
NC_000006.11:g.39016620G>C , CM000668.1:g.39016620G>C | GRCh37 |
NC_000006.10:g.39124598G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373256.5:c.4G>C MANE Select | ENSP00000362353.4:p.Ala2Pro | |
ENST00000373256.4:c.4G>C | ENSP00000362353.4:p.Ala2Pro | |
NM_002062.3:c.4G>C | NP_002053.3:p.Ala2Pro | |
XR_926153.1:n.64G>C | ||
XR_926154.1:n.64G>C | ||
XR_926155.1:n.64G>C | ||
NM_002062.4:c.4G>C | NP_002053.3:p.Ala2Pro | |
NR_136562.1:n.64G>C | ||
NR_136563.1:n.64G>C | ||
NM_002062.5:c.4G>C MANE Select | NP_002053.3:p.Ala2Pro | |
NR_136562.2:n.64G>C | ||
NR_136563.2:n.64G>C |