HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31546309G>C , CM000680.2:g.31546309G>C | GRCh38 |
NC_000018.9:g.29126272G>C , CM000680.1:g.29126272G>C | GRCh37 |
NC_000018.8:g.27380270G>C | NCBI36 |
NG_007072.3:g.53068G>C , LRG_397:g.53068G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261590.13:c.2923G>C (DSG2) MANE Select | ENSP00000261590.8:p.Val975Leu | |
ENST00000261590.12:c.2923G>C (DSG2) | ENSP00000261590.8:p.Val975Leu | |
NM_001943.3:c.2923G>C , LRG_397t1:c.2923G>C (DSG2) | NP_001934.2:p.Val975Leu | |
NR_045216.1:n.1346-403C>G (DSG2-AS1) | ||
NM_001943.4:c.2923G>C (DSG2) | NP_001934.2:p.Val975Leu | |
XM_024451095.1:c.2389G>C (DSG2) | XP_024306863.1:p.Val797Leu | |
NM_001943.5:c.2923G>C (DSG2) MANE Select | NP_001934.2:p.Val975Leu |