HGVS | Genome Assembly |
---|---|
NC_000010.11:g.87727315A>C , CM000672.2:g.87727315A>C | GRCh38 |
NC_000010.10:g.89487072A>C , CM000672.1:g.89487072A>C | GRCh37 |
NC_000010.9:g.89477052A>C | NCBI36 |
NG_012150.1:g.72597A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000456849.2:c.912A>C MANE Select | ENSP00000406157.1:p.Val304= | |
ENST00000361175.8:c.897A>C | ENSP00000354436.4:p.Val299= | |
ENST00000456849.1:c.912A>C | ENSP00000406157.1:p.Val304= | |
NM_001015880.1:c.912A>C | NP_001015880.1:p.Val304= | |
NM_004670.3:c.897A>C | NP_004661.2:p.Val299= | |
NM_001015880.2:c.912A>C MANE Select | NP_001015880.1:p.Val304= | |
NM_004670.4:c.897A>C | NP_004661.2:p.Val299= |