HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88732508C>A , CM000678.2:g.88732508C>A | GRCh38 |
NC_000016.9:g.88798916C>A , CM000678.1:g.88798916C>A | GRCh37 |
NC_000016.8:g.87326417C>A | NCBI36 |
NG_042229.1:g.57713G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.2818G>T (PIEZO1) MANE Select | ENSP00000301015.9:p.Val940Leu | |
ENST00000301015.13:c.2818G>T (PIEZO1) | ENSP00000301015.9:p.Val940Leu | |
ENST00000490756.1:n.402G>T (PIEZO1) | ||
NM_001142864.2:c.2818G>T (PIEZO1) | NP_001136336.2:p.Val940Leu | |
NM_001142864.3:c.2818G>T (PIEZO1) | NP_001136336.2:p.Val940Leu | |
NR_103774.1:n.269+1060C>A (HSALR1) | ||
NM_001142864.4:c.2818G>T (PIEZO1) MANE Select | NP_001136336.2:p.Val940Leu |