HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31545761C>A , CM000680.2:g.31545761C>A | GRCh38 |
NC_000018.9:g.29125724C>A , CM000680.1:g.29125724C>A | GRCh37 |
NC_000018.8:g.27379722C>A | NCBI36 |
NG_007072.3:g.52520C>A , LRG_397:g.52520C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261590.13:c.2375C>A (DSG2) MANE Select | ENSP00000261590.8:p.Ala792Asp | |
ENST00000261590.12:c.2375C>A (DSG2) | ENSP00000261590.8:p.Ala792Asp | |
NM_001943.3:c.2375C>A , LRG_397t1:c.2375C>A (DSG2) | NP_001934.2:p.Ala792Asp | |
NR_045216.1:n.1491G>T (DSG2-AS1) | ||
NM_001943.4:c.2375C>A (DSG2) | NP_001934.2:p.Ala792Asp | |
XM_024451095.1:c.1841C>A (DSG2) | XP_024306863.1:p.Ala614Asp | |
NM_001943.5:c.2375C>A (DSG2) MANE Select | NP_001934.2:p.Ala792Asp |