HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202464912C>G , CM000664.2:g.202464912C>G | GRCh38 |
NC_000002.11:g.203329635C>G , CM000664.1:g.203329635C>G | GRCh37 |
NC_000002.10:g.203037880C>G | NCBI36 |
NG_009363.1:g.93586C>G , LRG_712:g.93586C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.180C>G MANE Select | ENSP00000363708.4:p.Cys60Trp | |
ENST00000638587.1:c.105C>G | ENSP00000491062.1:p.Cys35Trp | |
ENST00000374574.2:c.180C>G | ENSP00000363702.2:p.Cys60Trp | |
ENST00000374580.8:c.180C>G | ENSP00000363708.4:p.Cys60Trp | |
ENST00000479069.1:n.87C>G | ||
NM_001204.6:c.180C>G , LRG_712t1:c.180C>G | NP_001195.2:p.Cys60Trp | |
XM_011511687.1:c.180C>G | XP_011509989.1:p.Cys60Trp | |
XM_011511688.1:c.180C>G | XP_011509990.1:p.Cys60Trp | |
NM_001204.7:c.180C>G MANE Select | NP_001195.2:p.Cys60Trp |