HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045748A>C , CM000675.2:g.48045748A>C | GRCh38 |
NC_000013.10:g.48619884A>C , CM000675.1:g.48619884A>C | GRCh37 |
NC_000013.9:g.47517885A>C | NCBI36 |
NG_047021.1:g.13182A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.444A>C MANE Select | ENSP00000258662.1:p.Pro148= | |
ENST00000258662.2:c.444A>C | ENSP00000258662.1:p.Pro148= | |
NM_018283.2:c.444A>C | NP_060753.1:p.Pro148= | |
NM_018283.3:c.444A>C | NP_060753.1:p.Pro148= | |
NR_136687.1:n.624A>C | ||
NR_136688.1:n.624A>C | ||
NM_018283.4:c.444A>C MANE Select | NP_060753.1:p.Pro148= | |
NR_136687.2:n.465A>C | ||
NR_136688.2:n.465A>C |