HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56983404C>G , CM000678.2:g.56983404C>G | GRCh38 |
NC_000016.9:g.57017316C>G , CM000678.1:g.57017316C>G | GRCh37 |
NC_000016.8:g.55574817C>G | NCBI36 |
NG_008952.1:g.26482C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000200676.8:c.1400C>G MANE Select | ENSP00000200676.3:p.Thr467Ser | |
ENST00000200676.7:c.1400C>G | ENSP00000200676.3:p.Thr467Ser | |
ENST00000379780.6:c.1220C>G | ENSP00000369106.2:p.Thr407Ser | |
ENST00000566128.1:c.1205C>G | ENSP00000456276.1:p.Thr402Ser | |
NM_000078.2:c.1400C>G | NP_000069.2:p.Thr467Ser | |
NM_001286085.1:c.1220C>G | NP_001273014.1:p.Thr407Ser | |
NM_000078.3:c.1400C>G MANE Select | NP_000069.2:p.Thr467Ser | |
NM_001286085.2:c.1220C>G | NP_001273014.1:p.Thr407Ser |