ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000274576 (MANE Select)
0.940
ENST00000455880
0.940
ENST00000545569
0.940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851487A>T , CM000667.2:g.151851487A>T | GRCh38 |
| NC_000005.9:g.151231048A>T , CM000667.1:g.151231048A>T | GRCh37 |
| NC_000005.8:g.151211241A>T | NCBI36 |
| NG_011764.1:g.78350T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.815T>A MANE Select | ENSP00000274576.5:p.Ile272Asn | |
| ENST00000274576.8:c.815T>A | ENSP00000274576.4:p.Ile272Asn | |
| ENST00000455880.2:c.815T>A | ENSP00000411593.2:p.Ile272Asn | |
| ENST00000462581.6:c.*573T>A | ENSP00000430595.1:n.*573T>A | |
| ENST00000471351.2:n.1098T>A | ||
| NM_000171.3:c.815T>A | NP_000162.2:p.Ile272Asn | |
| NM_001146040.1:c.815T>A | NP_001139512.1:p.Ile272Asn | |
| NM_001292000.1:c.566T>A | NP_001278929.1:p.Ile189Asn | |
| XM_005268412.2:c.815T>A | XP_005268469.1:p.Ile272Asn | |
| NM_000171.4:c.815T>A MANE Select | NP_000162.2:p.Ile272Asn | |
| NM_001146040.2:c.815T>A | NP_001139512.1:p.Ile272Asn | |
| NM_001292000.2:c.566T>A | NP_001278929.1:p.Ile189Asn |