HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022688C>G , CM000663.2:g.17022688C>G | GRCh38 |
NC_000001.10:g.17349183C>G , CM000663.1:g.17349183C>G | GRCh37 |
NC_000001.9:g.17221770C>G | NCBI36 |
NG_012340.1:g.36483G>C , LRG_316:g.36483G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.514G>C | ENSP00000481376.2:p.Glu172Gln | |
ENST00000491274.6:c.643G>C | ENSP00000480482.2:p.Glu215Gln | |
ENST00000375499.8:c.685G>C MANE Select | ENSP00000364649.3:p.Glu229Gln | |
ENST00000375499.7:c.685G>C | ENSP00000364649.3:p.Glu229Gln | |
ENST00000475049.5:n.110G>C | ||
ENST00000485092.5:n.349G>C | ||
ENST00000485515.5:n.619G>C | ||
NM_003000.2:c.685G>C , LRG_316t1:c.685G>C | NP_002991.2:p.Glu229Gln | |
NM_003000.3:c.685G>C MANE Select | NP_002991.2:p.Glu229Gln |