HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31545764A>G , CM000680.2:g.31545764A>G | GRCh38 |
NC_000018.9:g.29125727A>G , CM000680.1:g.29125727A>G | GRCh37 |
NC_000018.8:g.27379725A>G | NCBI36 |
NG_007072.3:g.52523A>G , LRG_397:g.52523A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261590.13:c.2378A>G (DSG2) MANE Select | ENSP00000261590.8:p.Lys793Arg | |
ENST00000261590.12:c.2378A>G (DSG2) | ENSP00000261590.8:p.Lys793Arg | |
NM_001943.3:c.2378A>G , LRG_397t1:c.2378A>G (DSG2) | NP_001934.2:p.Lys793Arg | |
NR_045216.1:n.1488T>C (DSG2-AS1) | ||
NM_001943.4:c.2378A>G (DSG2) | NP_001934.2:p.Lys793Arg | |
XM_024451095.1:c.1844A>G (DSG2) | XP_024306863.1:p.Lys615Arg | |
NM_001943.5:c.2378A>G (DSG2) MANE Select | NP_001934.2:p.Lys793Arg |