HGVS | Genome Assembly |
---|---|
NC_000001.11:g.56500849C>T , CM000663.2:g.56500849C>T | GRCh38 |
NC_000001.10:g.56966521C>T , CM000663.1:g.56966521C>T | GRCh37 |
NC_000001.9:g.56739109C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371250.4:c.811-4173G>A MANE Select | ENSP00000360296.3:n.811-4173G>A | |
ENST00000641109.1:c.220-4173G>A | ENSP00000493138.1:n.220-4173G>A | |
ENST00000641494.1:c.65-4173G>A | ||
ENST00000642129.1:c.455-4173G>A | ||
ENST00000371250.3:c.811-4173G>A | ENSP00000360296.3:n.811-4173G>A | |
ENST00000459962.1:n.1797-4173G>A | ||
ENST00000472957.1:n.296-4173G>A | ||
NM_003713.4:c.811-4173G>A | NP_003704.3:n.811-4173G>A | |
NM_003713.5:c.811-4173G>A MANE Select | NP_003704.3:n.811-4173G>A |