HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88732503G>C , CM000678.2:g.88732503G>C | GRCh38 |
NC_000016.9:g.88798911G>C , CM000678.1:g.88798911G>C | GRCh37 |
NC_000016.8:g.87326412G>C | NCBI36 |
NG_042229.1:g.57718C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.2823C>G (PIEZO1) MANE Select | ENSP00000301015.9:p.Phe941Leu | |
ENST00000301015.13:c.2823C>G (PIEZO1) | ENSP00000301015.9:p.Phe941Leu | |
ENST00000490756.1:n.407C>G (PIEZO1) | ||
NM_001142864.2:c.2823C>G (PIEZO1) | NP_001136336.2:p.Phe941Leu | |
NM_001142864.3:c.2823C>G (PIEZO1) | NP_001136336.2:p.Phe941Leu | |
NR_103774.1:n.269+1055G>C (HSALR1) | ||
NM_001142864.4:c.2823C>G (PIEZO1) MANE Select | NP_001136336.2:p.Phe941Leu |