HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17024015C>G , CM000663.2:g.17024015C>G | GRCh38 |
NC_000001.10:g.17350510C>G , CM000663.1:g.17350510C>G | GRCh37 |
NC_000001.9:g.17223097C>G | NCBI36 |
NG_012340.1:g.35156G>C , LRG_316:g.35156G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.429G>C | ENSP00000481376.2:p.Trp143Cys | |
ENST00000491274.6:c.558G>C | ENSP00000480482.2:p.Trp186Cys | |
ENST00000375499.8:c.600G>C MANE Select | ENSP00000364649.3:p.Trp200Cys | |
ENST00000375499.7:c.600G>C | ENSP00000364649.3:p.Trp200Cys | |
ENST00000485515.5:n.534G>C | ||
ENST00000491274.5:c.558G>C | ENSP00000480482.1:p.Trp186Cys | |
NM_003000.2:c.600G>C , LRG_316t1:c.600G>C | NP_002991.2:p.Trp200Cys | |
NM_003000.3:c.600G>C MANE Select | NP_002991.2:p.Trp200Cys |