HGVS | Genome Assembly |
---|---|
NC_000014.9:g.36663487A>T , CM000676.2:g.36663487A>T | GRCh38 |
NC_000014.8:g.37132692A>T , CM000676.1:g.37132692A>T | GRCh37 |
NC_000014.7:g.36202443A>T | NCBI36 |
NG_013357.1:g.10920A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361487.7:c.595A>T MANE Select | ENSP00000355245.6:p.Thr199Ser | |
ENST00000361487.6:c.595A>T | ENSP00000355245.6:p.Thr199Ser | |
ENST00000402703.6:c.595A>T | ENSP00000384817.2:p.Thr199Ser | |
ENST00000554201.1:c.34A>T | ENSP00000450434.1:p.Thr12Ser | |
NM_006194.3:c.595A>T | NP_006185.1:p.Thr199Ser | |
NM_001372076.1:c.595A>T MANE Select | NP_001359005.1:p.Thr199Ser | |
NM_006194.4:c.595A>T | NP_006185.1:p.Thr199Ser |