HGVS | Genome Assembly |
---|---|
NC_000006.12:g.79921708T>G , CM000668.2:g.79921708T>G | GRCh38 |
NC_000006.11:g.80631425T>G , CM000668.1:g.80631425T>G | GRCh37 |
NC_000006.10:g.80688144T>G | NCBI36 |
NG_009108.1:g.30891A>C | |
NG_009108.2:g.30891A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369816.5:c.458A>C MANE Select | ENSP00000358831.4:p.Gln153Pro | |
ENST00000369816.4:c.458A>C | ENSP00000358831.4:p.Gln153Pro | |
NM_022726.3:c.458A>C | NP_073563.1:p.Gln153Pro | |
NM_022726.4:c.458A>C MANE Select | NP_073563.1:p.Gln153Pro |