HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21176839T>G , CM000674.2:g.21176839T>G | GRCh38 |
NC_000012.11:g.21329773T>G , CM000674.1:g.21329773T>G | GRCh37 |
NC_000012.10:g.21221040T>G | NCBI36 |
NG_011745.1:g.50646T>G , LRG_1022:g.50646T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256958.3:c.423T>G MANE Select | ENSP00000256958.2:p.Thr141= | |
ENST00000256958.2:c.423T>G | ENSP00000256958.2:p.Thr141= | |
ENST00000543498.5:c.489T>G | ||
NM_006446.4:c.423T>G , LRG_1022t1:c.423T>G | NP_006437.3:p.Thr141= | |
NM_006446.5:c.423T>G MANE Select | NP_006437.3:p.Thr141= |