HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47343099G>T , CM000673.2:g.47343099G>T | GRCh38 |
NC_000011.9:g.47364650G>T , CM000673.1:g.47364650G>T | GRCh37 |
NC_000011.8:g.47321226G>T | NCBI36 |
NG_007667.1:g.14604C>A , LRG_386:g.14604C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.1273C>A MANE Select | ENSP00000442795.1:p.Gln425Lys | |
ENST00000256993.8:c.1273C>A | ENSP00000256993.5:p.Gln425Lys | |
ENST00000399249.6:c.1273C>A | ENSP00000382193.2:p.Gln425Lys | |
ENST00000544791.1:c.1273C>A | ENSP00000444259.1:p.Gln425Lys | |
ENST00000545968.5:c.1273C>A | ENSP00000442795.1:p.Gln425Lys | |
NM_000256.3:c.1273C>A , LRG_386t1:c.1273C>A MANE Select | NP_000247.2:p.Gln425Lys | |
XM_011520117.1:c.1255C>A | XP_011518419.1:p.Gln419Lys | |
XM_011520118.1:c.1273C>A | XP_011518420.1:p.Gln425Lys |