HGVS | Genome Assembly |
---|---|
NC_000008.11:g.10622596T>G , CM000670.2:g.10622596T>G | GRCh38 |
NC_000008.10:g.10480106T>G , CM000670.1:g.10480106T>G | GRCh37 |
NC_000008.9:g.10517516T>G | NCBI36 |
NG_028035.1:g.37512A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382483.4:c.606A>C MANE Select | ENSP00000371923.3:p.Lys202Asn | |
ENST00000329335.3:n.856A>C | ||
ENST00000382483.3:c.606A>C | ENSP00000371923.3:p.Lys202Asn | |
NM_178857.5:c.606A>C | NP_849188.4:p.Lys202Asn | |
NM_178857.6:c.606A>C MANE Select | NP_849188.4:p.Lys202Asn |