HGVS | Genome Assembly |
---|---|
NC_000011.10:g.72243855G>C , CM000673.2:g.72243855G>C | GRCh38 |
NC_000011.9:g.71954899G>C , CM000673.1:g.71954899G>C | GRCh37 |
NC_000011.8:g.71632547G>C | NCBI36 |
NG_008169.1:g.5322C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298231.5:c.150C>G MANE Select | ENSP00000298231.5:p.Pro50= | |
ENST00000544057.1:n.85+1725C>G | ||
NM_005169.3:c.150C>G | NP_005160.2:p.Pro50= | |
NM_005169.4:c.150C>G MANE Select | NP_005160.2:p.Pro50= |