HGVS | Genome Assembly |
---|---|
NC_000006.12:g.6224770C>T , CM000668.2:g.6224770C>T | GRCh38 |
NC_000006.11:g.6225003C>T , CM000668.1:g.6225003C>T | GRCh37 |
NC_000006.10:g.6170002C>T | NCBI36 |
NG_008107.1:g.100922G>A , LRG_549:g.100922G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264870.8:c.889G>A MANE Select | ENSP00000264870.3:p.Val297Ile | |
ENST00000264870.7:c.889G>A | ENSP00000264870.3:p.Val297Ile | |
ENST00000445223.1:c.39G>A | ||
NM_000129.3:c.889G>A , LRG_549t1:c.889G>A | NP_000120.2:p.Val297Ile | |
XM_006715010.2:c.889G>A | XP_006715073.1:p.Val297Ile | |
XM_011514342.1:c.1051G>A | XP_011512644.1:p.Val351Ile | |
NM_000129.4:c.889G>A MANE Select | NP_000120.2:p.Val297Ile |