HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31547532C>G , CM000680.2:g.31547532C>G | GRCh38 |
NC_000018.9:g.29127495C>G , CM000680.1:g.29127495C>G | GRCh37 |
NC_000018.8:g.27381493C>G | NCBI36 |
NG_007072.3:g.54291C>G , LRG_397:g.54291C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261590.13:c.*789C>G (DSG2) MANE Select | ENSP00000261590.8:n.*789C>G | |
ENST00000261590.12:c.*789C>G (DSG2) | ENSP00000261590.8:n.*789C>G | |
NM_001943.3:c.*789C>G , LRG_397t1:c.*789C>G (DSG2) | NP_001934.2:n.*789C>G | |
NR_045216.1:n.1346-1626G>C (DSG2-AS1) | ||
NM_001943.4:c.*789C>G (DSG2) | NP_001934.2:n.*789C>G | |
NM_001943.5:c.*789C>G (DSG2) MANE Select | NP_001934.2:n.*789C>G |