Linked Data
ClinVar Variation Id:
291346
ClinVar RCV Id:
RCV000295936
dbSNP Id:
rs772976797
ExAC:
1:100380990 A / T
gnomAD v2:
1-100380990-A-T
gnomAD v3:
1-99915434-A-T
gnomAD v4:
1-99915434-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99915434A>T , CM000663.2:g.99915434A>T | GRCh38 |
| NC_000001.10:g.100380990A>T , CM000663.1:g.100380990A>T | GRCh37 |
| NC_000001.9:g.100153578A>T | NCBI36 |
| NG_012865.1:g.70351A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.4207A>T MANE Select | ENSP00000355106.3:p.Ile1403Phe | |
| ENST00000637337.1:n.4418A>T | ||
| ENST00000294724.8:c.4207A>T | ENSP00000294724.4:p.Ile1403Phe | |
| ENST00000361302.7:c.4159A>T | ENSP00000354971.3:p.Ile1387Phe | |
| ENST00000361522.4:c.4156A>T | ENSP00000354635.4:p.Ile1386Phe | |
| ENST00000361915.7:c.4207A>T | ENSP00000355106.3:p.Ile1403Phe | |
| ENST00000370161.6:c.4159A>T | ENSP00000359180.2:p.Ile1387Phe | |
| ENST00000370163.7:c.4207A>T | ENSP00000359182.3:p.Ile1403Phe | |
| ENST00000370165.7:c.4207A>T | ENSP00000359184.3:p.Ile1403Phe | |
| NM_000028.2:c.4207A>T | NP_000019.2:p.Ile1403Phe | |
| NM_000642.2:c.4207A>T | NP_000633.2:p.Ile1403Phe | |
| NM_000643.2:c.4207A>T | NP_000634.2:p.Ile1403Phe | |
| NM_000644.2:c.4207A>T | NP_000635.2:p.Ile1403Phe | |
| NM_000645.2:c.4156A>T | NP_000636.2:p.Ile1386Phe | |
| NM_000646.2:c.4159A>T | NP_000637.2:p.Ile1387Phe | |
| XM_005270557.1:c.4207A>T | XP_005270614.1:p.Ile1403Phe | |
| XR_947626.1:n.1318-2217T>A | ||
| XR_947627.1:n.1207-2217T>A | ||
| XR_947628.1:n.1312-2217T>A | ||
| XR_947630.1:n.1250-2217T>A | ||
| XR_947632.1:n.1136-2217T>A | ||
| XR_947633.1:n.1247-2217T>A | ||
| XR_947634.1:n.661-2217T>A | ||
| XR_947635.1:n.729-2217T>A | ||
| XM_005270557.2:c.4207A>T | XP_005270614.1:p.Ile1403Phe | |
| XM_017000501.2:c.2467A>T | XP_016855990.1:p.Ile823Phe | |
| NM_000642.3:c.4207A>T MANE Select | NP_000633.2:p.Ile1403Phe |