HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552271T>G , CM000681.2:g.43552271T>G | GRCh38 |
NC_000019.9:g.44056423T>G , CM000681.1:g.44056423T>G | GRCh37 |
NC_000019.8:g.48748263T>G | NCBI36 |
NG_033799.1:g.28308A>C , LRG_784:g.28308A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.828A>C MANE Select | ENSP00000262887.5:p.Pro276= | |
ENST00000262887.9:c.828A>C | ENSP00000262887.4:p.Pro276= | |
ENST00000543982.5:c.735A>C | ENSP00000443671.1:p.Pro245= | |
ENST00000595789.5:n.949A>C | ||
ENST00000597811.5:c.438A>C | ||
ENST00000598165.5:c.849A>C | ENSP00000470045.1:p.Pro283= | |
ENST00000598422.1:n.508A>C | ||
NM_006297.2:c.828A>C , LRG_784t1:c.828A>C | NP_006288.2:p.Pro276= | |
NM_006297.3:c.828A>C MANE Select | NP_006288.2:p.Pro276= |