HGVS | Genome Assembly |
---|---|
NC_000001.11:g.165419919G>A , CM000663.2:g.165419919G>A | GRCh38 |
NC_000001.10:g.165389156G>A , CM000663.1:g.165389156G>A | GRCh37 |
NC_000001.9:g.163655780G>A | NCBI36 |
NG_029517.1:g.30437C>T | |
NG_029517.2:g.30437C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359842.10:c.393C>T MANE Select | ENSP00000352900.5:p.Pro131= | |
ENST00000359842.9:c.393C>T | ENSP00000352900.5:p.Pro131= | |
ENST00000470566.1:n.318C>T | ||
ENST00000619224.1:c.24C>T | ENSP00000482458.1:p.Pro8= | |
NM_001256570.1:c.24C>T | NP_001243499.1:p.Pro8= | |
NM_001256571.1:c.24C>T | NP_001243500.1:p.Pro8= | |
NM_006917.4:c.393C>T | NP_008848.1:p.Pro131= | |
NM_006917.5:c.393C>T MANE Select | NP_008848.1:p.Pro131= | |
NM_001256571.2:c.24C>T | NP_001243500.1:p.Pro8= | |
NM_001256570.2:c.24C>T | NP_001243499.1:p.Pro8= |