HGVS | Genome Assembly |
---|---|
NC_000023.11:g.48526991A>C , CM000685.2:g.48526991A>C | GRCh38 |
NC_000023.10:g.48385379A>C , CM000685.1:g.48385379A>C | GRCh37 |
NC_000023.9:g.48270323A>C | NCBI36 |
NG_007452.1:g.10216A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000495186.6:c.304A>C MANE Select | ENSP00000417052.1:p.Lys102Gln | |
ENST00000651615.1:c.304A>C | ENSP00000498524.1:p.Lys102Gln | |
ENST00000276096.10:n.262A>C | ||
ENST00000414061.1:c.304A>C | ENSP00000405832.1:p.Lys102Gln | |
ENST00000446158.5:c.304A>C | ENSP00000390031.1:p.Lys102Gln | |
ENST00000466461.1:n.143A>C | ||
ENST00000495186.5:c.304A>C | ENSP00000417052.1:p.Lys102Gln | |
ENST00000498425.1:n.425A>C | ||
NM_006579.2:c.304A>C | NP_006570.1:p.Lys102Gln | |
NM_006579.3:c.304A>C MANE Select | NP_006570.1:p.Lys102Gln |