HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045691T>G , CM000675.2:g.48045691T>G | GRCh38 |
NC_000013.10:g.48619827T>G , CM000675.1:g.48619827T>G | GRCh37 |
NC_000013.9:g.47517828T>G | NCBI36 |
NG_047021.1:g.13125T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.387T>G MANE Select | ENSP00000258662.1:p.Pro129= | |
ENST00000258662.2:c.387T>G | ENSP00000258662.1:p.Pro129= | |
NM_018283.2:c.387T>G | NP_060753.1:p.Pro129= | |
NM_018283.3:c.387T>G | NP_060753.1:p.Pro129= | |
NR_136687.1:n.567T>G | ||
NR_136688.1:n.567T>G | ||
NM_018283.4:c.387T>G MANE Select | NP_060753.1:p.Pro129= | |
NR_136687.2:n.408T>G | ||
NR_136688.2:n.408T>G |