HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56983403A>G , CM000678.2:g.56983403A>G | GRCh38 |
NC_000016.9:g.57017315A>G , CM000678.1:g.57017315A>G | GRCh37 |
NC_000016.8:g.55574816A>G | NCBI36 |
NG_008952.1:g.26481A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000200676.8:c.1399A>G MANE Select | ENSP00000200676.3:p.Thr467Ala | |
ENST00000200676.7:c.1399A>G | ENSP00000200676.3:p.Thr467Ala | |
ENST00000379780.6:c.1219A>G | ENSP00000369106.2:p.Thr407Ala | |
ENST00000566128.1:c.1204A>G | ENSP00000456276.1:p.Thr402Ala | |
NM_000078.2:c.1399A>G | NP_000069.2:p.Thr467Ala | |
NM_001286085.1:c.1219A>G | NP_001273014.1:p.Thr407Ala | |
NM_000078.3:c.1399A>G MANE Select | NP_000069.2:p.Thr467Ala | |
NM_001286085.2:c.1219A>G | NP_001273014.1:p.Thr407Ala |