HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31546098G>C , CM000680.2:g.31546098G>C | GRCh38 |
NC_000018.9:g.29126061G>C , CM000680.1:g.29126061G>C | GRCh37 |
NC_000018.8:g.27380059G>C | NCBI36 |
NG_007072.3:g.52857G>C , LRG_397:g.52857G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261590.13:c.2712G>C (DSG2) MANE Select | ENSP00000261590.8:p.Gln904His | |
ENST00000261590.12:c.2712G>C (DSG2) | ENSP00000261590.8:p.Gln904His | |
NM_001943.3:c.2712G>C , LRG_397t1:c.2712G>C (DSG2) | NP_001934.2:p.Gln904His | |
NR_045216.1:n.1346-192C>G (DSG2-AS1) | ||
NM_001943.4:c.2712G>C (DSG2) | NP_001934.2:p.Gln904His | |
XM_024451095.1:c.2178G>C (DSG2) | XP_024306863.1:p.Gln726His | |
NM_001943.5:c.2712G>C (DSG2) MANE Select | NP_001934.2:p.Gln904His |