HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552162G>C , CM000681.2:g.43552162G>C | GRCh38 |
NC_000019.9:g.44056314G>C , CM000681.1:g.44056314G>C | GRCh37 |
NC_000019.8:g.48748154G>C | NCBI36 |
NG_033799.1:g.28417C>G , LRG_784:g.28417C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.937C>G MANE Select | ENSP00000262887.5:p.Pro313Ala | |
ENST00000262887.9:c.937C>G | ENSP00000262887.4:p.Pro313Ala | |
ENST00000543982.5:c.844C>G | ENSP00000443671.1:p.Pro282Ala | |
ENST00000595789.5:n.1058C>G | ||
ENST00000597811.5:c.547C>G | ||
ENST00000598422.1:n.617C>G | ||
NM_006297.2:c.937C>G , LRG_784t1:c.937C>G | NP_006288.2:p.Pro313Ala | |
NM_006297.3:c.937C>G MANE Select | NP_006288.2:p.Pro313Ala |