HGVS | Genome Assembly |
---|---|
NC_000014.9:g.36663484G>A , CM000676.2:g.36663484G>A | GRCh38 |
NC_000014.8:g.37132689G>A , CM000676.1:g.37132689G>A | GRCh37 |
NC_000014.7:g.36202440G>A | NCBI36 |
NG_013357.1:g.10917G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361487.7:c.592G>A MANE Select | ENSP00000355245.6:p.Val198Ile | |
ENST00000361487.6:c.592G>A | ENSP00000355245.6:p.Val198Ile | |
ENST00000402703.6:c.592G>A | ENSP00000384817.2:p.Val198Ile | |
ENST00000554201.1:c.31G>A | ENSP00000450434.1:p.Val11Ile | |
NM_006194.3:c.592G>A | NP_006185.1:p.Val198Ile | |
NM_001372076.1:c.592G>A MANE Select | NP_001359005.1:p.Val198Ile | |
NM_006194.4:c.592G>A | NP_006185.1:p.Val198Ile |