HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88732327T>A , CM000678.2:g.88732327T>A | GRCh38 |
NC_000016.9:g.88798735T>A , CM000678.1:g.88798735T>A | GRCh37 |
NC_000016.8:g.87326236T>A | NCBI36 |
NG_042229.1:g.57894A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.2991+8A>T (PIEZO1) MANE Select | ENSP00000301015.9:n.2991+8A>T | |
ENST00000301015.13:c.2991+8A>T (PIEZO1) | ENSP00000301015.9:n.2991+8A>T | |
NM_001142864.2:c.2991+8A>T (PIEZO1) | NP_001136336.2:n.2991+8A>T | |
NM_001142864.3:c.2991+8A>T (PIEZO1) | NP_001136336.2:n.2991+8A>T | |
NR_103774.1:n.269+879T>A (HSALR1) | ||
NM_001142864.4:c.2991+8A>T (PIEZO1) MANE Select | NP_001136336.2:n.2991+8A>T |