Linked Data
ClinVar Variation Id:
524793
dbSNP Id:
rs552913880
ExAC:
15:91303385 A / C
gnomAD v2:
15-91303385-A-C
gnomAD v3:
15-90760155-A-C
gnomAD v4:
15-90760155-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90760155A>C , CM000677.2:g.90760155A>C | GRCh38 |
| NC_000015.9:g.91303385A>C , CM000677.1:g.91303385A>C | GRCh37 |
| NC_000015.8:g.89104389A>C | NCBI36 |
| NG_007272.1:g.47784A>C , LRG_20:g.47784A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.1096A>C MANE Select | ENSP00000347232.3:p.Ile366Leu | |
| ENST00000648453.1:c.1096A>C | ENSP00000497646.1:p.Ile366Leu | |
| ENST00000680772.1:c.1096A>C | ENSP00000506117.1:p.Ile366Leu | |
| ENST00000681142.1:c.1096A>C | ENSP00000506682.1:p.Ile366Leu | |
| ENST00000355112.7:c.1096A>C | ENSP00000347232.3:p.Ile366Leu | |
| ENST00000558599.1:n.349-439A>C | ||
| ENST00000559724.5:c.*20A>C | ENSP00000453359.1:n.*20A>C | |
| ENST00000560509.5:c.1096A>C | ENSP00000454158.1:p.Ile366Leu | |
| NM_000057.3:c.1096A>C | NP_000048.1:p.Ile366Leu | |
| NM_001287246.1:c.1096A>C | NP_001274175.1:p.Ile366Leu | |
| NM_001287247.1:c.1096A>C | NP_001274176.1:p.Ile366Leu | |
| NM_001287248.1:c.-30A>C | NP_001274177.1:n.-30A>C | |
| XM_011521881.1:c.-94-439A>C | XP_011520183.1:n.-94-439A>C | |
| XM_011521882.1:c.1096A>C | XP_011520184.1:p.Ile366Leu | |
| XM_011521881.2:c.-94-439A>C | XP_011520183.1:n.-94-439A>C | |
| XM_011521882.3:c.1096A>C | XP_011520184.1:p.Ile366Leu | |
| NM_000057.4:c.1096A>C MANE Select | NP_000048.1:p.Ile366Leu | |
| NM_001287246.2:c.1096A>C | NP_001274175.1:p.Ile366Leu | |
| NM_001287247.2:c.1096A>C | NP_001274176.1:p.Ile366Leu | |
| NM_001287248.2:c.-30A>C | NP_001274177.1:n.-30A>C |