HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88734046G>C , CM000678.2:g.88734046G>C | GRCh38 |
NC_000016.9:g.88800454G>C , CM000678.1:g.88800454G>C | GRCh37 |
NC_000016.8:g.87327955G>C | NCBI36 |
NG_042229.1:g.56175C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.2189C>G (PIEZO1) MANE Select | ENSP00000301015.9:p.Ala730Gly | |
ENST00000301015.13:c.2189C>G (PIEZO1) | ENSP00000301015.9:p.Ala730Gly | |
NM_001142864.2:c.2189C>G (PIEZO1) | NP_001136336.2:p.Ala730Gly | |
NM_001142864.3:c.2189C>G (PIEZO1) | NP_001136336.2:p.Ala730Gly | |
NR_103774.1:n.269+2598G>C (HSALR1) | ||
NM_001142864.4:c.2189C>G (PIEZO1) MANE Select | NP_001136336.2:p.Ala730Gly |