HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43068032T>G , CM000677.2:g.43068032T>G | GRCh38 |
NC_000015.9:g.43360230T>G , CM000677.1:g.43360230T>G | GRCh37 |
NC_000015.8:g.41147522T>G | NCBI36 |
NG_012182.1:g.43057A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290650.9:c.664A>C MANE Select | ENSP00000290650.4:p.Lys222Gln | |
ENST00000290650.8:c.664A>C | ENSP00000290650.4:p.Lys222Gln | |
ENST00000546274.6:c.664A>C | ENSP00000477932.1:p.Lys222Gln | |
ENST00000563239.1:c.*202+2867A>C | ENSP00000456502.1:n.*202+2867A>C | |
NM_174916.2:c.664A>C | NP_777576.1:p.Lys222Gln | |
NM_174916.3:c.664A>C MANE Select | NP_777576.1:p.Lys222Gln |