Linked Data
ClinVar Variation Id:
304924
ClinVar RCV Id:
RCV000384321
dbSNP Id:
rs776075728
ExAC:
11:47256919 A / T
gnomAD v2:
11-47256919-A-T
gnomAD v3:
11-47235368-A-T
gnomAD v4:
11-47235368-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47235368A>T , CM000673.2:g.47235368A>T | GRCh38 |
| NC_000011.9:g.47256919A>T , CM000673.1:g.47256919A>T | GRCh37 |
| NC_000011.8:g.47213495A>T | NCBI36 |
| NG_009365.1:g.25427A>T , LRG_467:g.25427A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.979A>T MANE Select | ENSP00000256996.4:p.Ile327Phe | |
| ENST00000256996.8:c.979A>T | ENSP00000256996.3:p.Ile327Phe | |
| ENST00000378600.7:c.457-2469A>T | ENSP00000367863.3:n.457-2469A>T | |
| ENST00000378601.7:c.*66A>T | ENSP00000367864.3:n.*66A>T | |
| ENST00000378603.7:c.787A>T | ENSP00000367866.3:p.Ile263Phe | |
| ENST00000612309.4:n.2428A>T | ||
| ENST00000614394.1:n.369A>T | ||
| ENST00000616278.4:c.655A>T | ENSP00000478411.1:n.655A>T | |
| ENST00000617022.4:n.1554-2469A>T | ||
| ENST00000617847.4:c.908A>T | ||
| ENST00000620515.1:n.145A>T | ||
| NM_000107.2:c.979A>T , LRG_467t1:c.979A>T | NP_000098.1:p.Ile327Phe | |
| NM_001300734.1:c.457-2469A>T | NP_001287663.1:n.457-2469A>T | |
| XR_242780.3:n.969A>T | ||
| XR_242780.4:n.969A>T | ||
| NM_000107.3:c.979A>T MANE Select | NP_000098.1:p.Ile327Phe | |
| NM_001300734.2:c.457-2469A>T | NP_001287663.1:n.457-2469A>T | |
| NM_001399874.1:c.979A>T | NP_001386803.1:p.Ile327Phe | |
| NM_001399875.1:c.979A>T | NP_001386804.1:p.Ile327Phe | |
| NM_001399876.1:c.457-2469A>T | NP_001386805.1:n.457-2469A>T | |
| NM_001399878.1:c.787A>T | NP_001386807.1:p.Ile263Phe | |
| NR_174610.1:n.1230A>T | ||
| NR_174611.1:n.1208A>T |