HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199337C= , CM000671.2:g.137199337C= | GRCh38 |
NC_000009.11:g.140093789C= , CM000671.1:g.140093789C= | GRCh37 |
NC_000009.10:g.139213610C= | NCBI36 |
NG_027801.1:g.6375G= | |
NG_027801.2:g.9857G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.1375G= MANE Select | ENSP00000387100.4:p.Asp459= | |
ENST00000333046.8:c.769G= | ENSP00000327617.4:p.Asp257= | |
ENST00000409012.4:c.1375G= | ENSP00000387100.4:p.Asp459= | |
ENST00000541945.1:n.90+4767G= | ||
NM_001128228.2:c.1375G= | NP_001121700.2:p.Asp459= | |
NM_001128228.3:c.1375G= MANE Select | NP_001121700.2:p.Asp459= |