HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202520184C>G , CM000664.2:g.202520184C>G | GRCh38 |
NC_000002.11:g.203384907C>G , CM000664.1:g.203384907C>G | GRCh37 |
NC_000002.10:g.203093152C>G | NCBI36 |
NG_009363.1:g.148858C>G , LRG_712:g.148858C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.950C>G MANE Select | ENSP00000363708.4:p.Thr317Arg | |
ENST00000638587.1:c.881C>G | ENSP00000491062.1:p.Thr294Arg | |
ENST00000374574.2:c.950C>G | ENSP00000363702.2:p.Thr317Arg | |
ENST00000374580.8:c.950C>G | ENSP00000363708.4:p.Thr317Arg | |
NM_001204.6:c.950C>G , LRG_712t1:c.950C>G | NP_001195.2:p.Thr317Arg | |
XM_011511687.1:c.950C>G | XP_011509989.1:p.Thr317Arg | |
XM_011511688.1:c.950C>G | XP_011509990.1:p.Thr317Arg | |
NM_001204.7:c.950C>G MANE Select | NP_001195.2:p.Thr317Arg |