HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31546096C>G , CM000680.2:g.31546096C>G | GRCh38 |
NC_000018.9:g.29126059C>G , CM000680.1:g.29126059C>G | GRCh37 |
NC_000018.8:g.27380057C>G | NCBI36 |
NG_007072.3:g.52855C>G , LRG_397:g.52855C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261590.13:c.2710C>G (DSG2) MANE Select | ENSP00000261590.8:p.Gln904Glu | |
ENST00000261590.12:c.2710C>G (DSG2) | ENSP00000261590.8:p.Gln904Glu | |
NM_001943.3:c.2710C>G , LRG_397t1:c.2710C>G (DSG2) | NP_001934.2:p.Gln904Glu | |
NR_045216.1:n.1346-190G>C (DSG2-AS1) | ||
NM_001943.4:c.2710C>G (DSG2) | NP_001934.2:p.Gln904Glu | |
XM_024451095.1:c.2176C>G (DSG2) | XP_024306863.1:p.Gln726Glu | |
NM_001943.5:c.2710C>G (DSG2) MANE Select | NP_001934.2:p.Gln904Glu |