HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88734012C>G , CM000678.2:g.88734012C>G | GRCh38 |
NC_000016.9:g.88800420C>G , CM000678.1:g.88800420C>G | GRCh37 |
NC_000016.8:g.87327921C>G | NCBI36 |
NG_042229.1:g.56209G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.2223G>C (PIEZO1) MANE Select | ENSP00000301015.9:p.Gln741His | |
ENST00000301015.13:c.2223G>C (PIEZO1) | ENSP00000301015.9:p.Gln741His | |
NM_001142864.2:c.2223G>C (PIEZO1) | NP_001136336.2:p.Gln741His | |
NM_001142864.3:c.2223G>C (PIEZO1) | NP_001136336.2:p.Gln741His | |
NR_103774.1:n.269+2564C>G (HSALR1) | ||
NM_001142864.4:c.2223G>C (PIEZO1) MANE Select | NP_001136336.2:p.Gln741His |