Linked Data
ClinVar Variation Id:
1575100
ClinVar RCV Id:
RCV002083308
dbSNP Id:
rs201125673
ExAC:
4:175414309 T / A
gnomAD v2:
4-175414309-T-A
gnomAD v3:
4-174493158-T-A
gnomAD v4:
4-174493158-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.174493158T>A , CM000666.2:g.174493158T>A | GRCh38 |
| NC_000004.11:g.175414309T>A , CM000666.1:g.175414309T>A | GRCh37 |
| NC_000004.10:g.175650884T>A | NCBI36 |
| NG_011689.1:g.34484A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296522.11:c.655A>T MANE Select | ENSP00000296522.6:p.Ile219Phe | |
| ENST00000296521.11:c.499-1064A>T | ENSP00000296521.7:n.499-1064A>T | |
| ENST00000296522.10:c.655A>T | ENSP00000296522.6:p.Ile219Phe | |
| ENST00000422112.6:c.451A>T | ENSP00000398720.2:p.Ile151Phe | |
| ENST00000506910.5:c.292A>T | ENSP00000423066.1:p.Ile98Phe | |
| ENST00000508330.5:c.*284A>T | ENSP00000425741.1:n.*284A>T | |
| ENST00000509512.1:n.304A>T | ||
| ENST00000510835.5:c.*417A>T | ENSP00000427699.1:n.*417A>T | |
| ENST00000510901.5:c.292A>T | ENSP00000422418.1:p.Ile98Phe | |
| ENST00000511499.5:n.439A>T | ||
| ENST00000541923.5:c.292A>T | ENSP00000438017.1:p.Ile98Phe | |
| ENST00000542498.5:c.422-1064A>T | ENSP00000443644.1:n.422-1064A>T | |
| NM_000860.5:c.655A>T | NP_000851.2:p.Ile219Phe | |
| NM_001145816.2:c.499-1064A>T | NP_001139288.1:n.499-1064A>T | |
| NM_001256301.1:c.292A>T | NP_001243230.1:p.Ile98Phe | |
| NM_001256305.1:c.422-1064A>T | NP_001243234.1:n.422-1064A>T | |
| NM_001256306.1:c.451A>T | NP_001243235.1:p.Ile151Phe | |
| NM_001256307.1:c.292A>T | NP_001243236.1:p.Ile98Phe | |
| NM_000860.6:c.655A>T MANE Select | NP_000851.2:p.Ile219Phe | |
| NM_001145816.3:c.499-1064A>T | NP_001139288.1:n.499-1064A>T | |
| NM_001256305.2:c.422-1064A>T | NP_001243234.1:n.422-1064A>T | |
| NM_001256306.2:c.451A>T | NP_001243235.1:p.Ile151Phe | |
| NM_001256307.2:c.292A>T | NP_001243236.1:p.Ile98Phe |