HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21013298T>C , CM000664.2:g.21013298T>C | GRCh38 |
NC_000002.11:g.21236170T>C , CM000664.1:g.21236170T>C | GRCh37 |
NC_000002.10:g.21089675T>C | NCBI36 |
NG_011793.1:g.35776A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673739.2:c.*3384A>G | ENSP00000501110.2:n.*3384A>G | |
ENST00000673739.1:c.3792A>G | ENSP00000501110.1:n.3792A>G | |
ENST00000233242.5:c.4078A>G MANE Select | ENSP00000233242.1:p.Thr1360Ala | |
ENST00000616098.4:c.4078A>G | ENSP00000477990.1:p.Thr1360Ala | |
NM_000384.2:c.4078A>G | NP_000375.2:p.Thr1360Ala | |
XM_011532809.1:c.4078A>G | XP_011531111.1:p.Thr1360Ala | |
NM_000384.3:c.4078A>G MANE Select | NP_000375.3:p.Thr1360Ala |