HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6224719G>A , CM000668.2:g.6224719G>A | GRCh38 |
NC_000006.11:g.6224952G>A , CM000668.1:g.6224952G>A | GRCh37 |
NC_000006.10:g.6169951G>A | NCBI36 |
NG_008107.1:g.100973C>T , LRG_549:g.100973C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264870.8:c.940C>T MANE Select | ENSP00000264870.3:p.Gln314Ter | |
ENST00000264870.7:c.940C>T | ENSP00000264870.3:p.Gln314Ter | |
ENST00000445223.1:c.90C>T | ||
NM_000129.3:c.940C>T , LRG_549t1:c.940C>T | NP_000120.2:p.Gln314Ter | |
XM_006715010.2:c.940C>T | XP_006715073.1:p.Gln314Ter | |
XM_011514342.1:c.1102C>T | XP_011512644.1:p.Gln368Ter | |
NM_000129.4:c.940C>T MANE Select | NP_000120.2:p.Gln314Ter |