HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154561T>C , CM000668.2:g.3154561T>C | GRCh38 |
NC_000006.11:g.3154795T>C , CM000668.1:g.3154795T>C | GRCh37 |
NC_000006.10:g.3099794T>C | NCBI36 |
NG_042223.1:g.7989A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.640A>G MANE Select | ENSP00000369703.2:p.Thr214Ala | |
ENST00000679400.1:n.696A>G | ||
ENST00000679907.1:n.1028A>G | ||
ENST00000680036.1:n.1422A>G | ||
ENST00000680967.1:n.1730A>G | ||
ENST00000333628.3:c.640A>G | ENSP00000369703.2:p.Thr214Ala | |
NM_001069.2:c.640A>G | NP_001060.1:p.Thr214Ala | |
NM_001310315.1:c.385A>G | NP_001297244.1:p.Thr129Ala | |
NM_001069.3:c.640A>G MANE Select | NP_001060.1:p.Thr214Ala | |
NM_001310315.2:c.385A>G | NP_001297244.1:p.Thr129Ala |