HGVS | Genome Assembly |
---|---|
NC_000001.11:g.40838478A>T , CM000663.2:g.40838478A>T | GRCh38 |
NC_000001.10:g.41304150A>T , CM000663.1:g.41304150A>T | GRCh37 |
NC_000001.9:g.41076737A>T | NCBI36 |
NG_008139.1:g.59467A>T | |
NG_008139.2:g.59467A>T | |
NG_008139.3:g.59692A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000347132.10:c.2043A>T MANE Select | ENSP00000262916.6:p.Ala681= | |
ENST00000347132.9:c.2043A>T | ENSP00000262916.6:p.Ala681= | |
ENST00000443478.3:c.1624A>T | ||
ENST00000506017.1:n.1362A>T | ||
ENST00000509682.6:c.1881A>T | ENSP00000423756.2:p.Ala627= | |
NM_004700.3:c.2043A>T | NP_004691.2:p.Ala681= | |
NM_172163.2:c.1881A>T | NP_751895.1:p.Ala627= | |
XM_017002792.1:c.1026A>T | XP_016858281.1:p.Ala342= | |
NM_004700.4:c.2043A>T MANE Select | NP_004691.2:p.Ala681= | |
NM_172163.3:c.1881A>T | NP_751895.1:p.Ala627= |