HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88738287A>G , CM000678.2:g.88738287A>G | GRCh38 |
NC_000016.9:g.88804695A>G , CM000678.1:g.88804695A>G | GRCh37 |
NC_000016.8:g.87332196A>G | NCBI36 |
NG_042229.1:g.51934T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.788T>C (PIEZO1) MANE Select | ENSP00000301015.9:p.Leu263Pro | |
ENST00000301015.13:c.788T>C (PIEZO1) | ENSP00000301015.9:p.Leu263Pro | |
NM_001142864.2:c.788T>C (PIEZO1) | NP_001136336.2:p.Leu263Pro | |
NM_001142864.3:c.788T>C (PIEZO1) | NP_001136336.2:p.Leu263Pro | |
NR_103774.1:n.736A>G (HSALR1) | ||
NM_001142864.4:c.788T>C (PIEZO1) MANE Select | NP_001136336.2:p.Leu263Pro |