HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31542710A>T , CM000680.2:g.31542710A>T | GRCh38 |
NC_000018.9:g.29122673A>T , CM000680.1:g.29122673A>T | GRCh37 |
NC_000018.8:g.27376671A>T | NCBI36 |
NG_007072.3:g.49469A>T , LRG_397:g.49469A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261590.13:c.2192A>T (DSG2) MANE Select | ENSP00000261590.8:p.Gln731Leu | |
ENST00000261590.12:c.2192A>T (DSG2) | ENSP00000261590.8:p.Gln731Leu | |
NM_001943.3:c.2192A>T , LRG_397t1:c.2192A>T (DSG2) | NP_001934.2:p.Gln731Leu | |
NR_045216.1:n.1811-389T>A (DSG2-AS1) | ||
NM_001943.4:c.2192A>T (DSG2) | NP_001934.2:p.Gln731Leu | |
XM_024451095.1:c.1658A>T (DSG2) | XP_024306863.1:p.Gln553Leu | |
NM_001943.5:c.2192A>T (DSG2) MANE Select | NP_001934.2:p.Gln731Leu |