HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88732649C>T , CM000678.2:g.88732649C>T | GRCh38 |
NC_000016.9:g.88799057C>T , CM000678.1:g.88799057C>T | GRCh37 |
NC_000016.8:g.87326558C>T | NCBI36 |
NG_042229.1:g.57572G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.2748G>A (PIEZO1) MANE Select | ENSP00000301015.9:p.Trp916Ter | |
ENST00000301015.13:c.2748G>A (PIEZO1) | ENSP00000301015.9:p.Trp916Ter | |
ENST00000490756.1:n.332G>A (PIEZO1) | ||
NM_001142864.2:c.2748G>A (PIEZO1) | NP_001136336.2:p.Trp916Ter | |
NM_001142864.3:c.2748G>A (PIEZO1) | NP_001136336.2:p.Trp916Ter | |
NR_103774.1:n.269+1201C>T (HSALR1) | ||
NM_001142864.4:c.2748G>A (PIEZO1) MANE Select | NP_001136336.2:p.Trp916Ter |