HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88732586C>G , CM000678.2:g.88732586C>G | GRCh38 |
NC_000016.9:g.88798994C>G , CM000678.1:g.88798994C>G | GRCh37 |
NC_000016.8:g.87326495C>G | NCBI36 |
NG_042229.1:g.57635G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.2790+21G>C (PIEZO1) MANE Select | ENSP00000301015.9:n.2790+21G>C | |
ENST00000301015.13:c.2790+21G>C (PIEZO1) | ENSP00000301015.9:n.2790+21G>C | |
ENST00000490756.1:n.374+21G>C (PIEZO1) | ||
NM_001142864.2:c.2790+21G>C (PIEZO1) | NP_001136336.2:n.2790+21G>C | |
NM_001142864.3:c.2790+21G>C (PIEZO1) | NP_001136336.2:n.2790+21G>C | |
NR_103774.1:n.269+1138C>G (HSALR1) | ||
NM_001142864.4:c.2790+21G>C (PIEZO1) MANE Select | NP_001136336.2:n.2790+21G>C |