HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202519002A>G , CM000664.2:g.202519002A>G | GRCh38 |
NC_000002.11:g.203383725A>G , CM000664.1:g.203383725A>G | GRCh37 |
NC_000002.10:g.203091970A>G | NCBI36 |
NG_009363.1:g.147676A>G , LRG_712:g.147676A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.802A>G MANE Select | ENSP00000363708.4:p.Thr268Ala | |
ENST00000638587.1:c.733A>G | ENSP00000491062.1:p.Thr245Ala | |
ENST00000374574.2:c.802A>G | ENSP00000363702.2:p.Thr268Ala | |
ENST00000374580.8:c.802A>G | ENSP00000363708.4:p.Thr268Ala | |
NM_001204.6:c.802A>G , LRG_712t1:c.802A>G | NP_001195.2:p.Thr268Ala | |
XM_011511687.1:c.802A>G | XP_011509989.1:p.Thr268Ala | |
XM_011511688.1:c.802A>G | XP_011509990.1:p.Thr268Ala | |
NM_001204.7:c.802A>G MANE Select | NP_001195.2:p.Thr268Ala |