Linked Data
ClinVar Variation Id:
256818
dbSNP Id:
rs3751582
ExAC:
15:26806064 T / C
gnomAD v2:
15-26806064-T-C
gnomAD v3:
15-26560917-T-C
gnomAD v4:
15-26560917-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26560917T>C , CM000677.2:g.26560917T>C | GRCh38 |
| NC_000015.9:g.26806064T>C , CM000677.1:g.26806064T>C | GRCh37 |
| NC_000015.8:g.24357157T>C | NCBI36 |
| NG_012836.1:g.217864A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299267.9:c.1080+15A>G | ENSP00000299267.4:n.1080+15A>G | |
| ENST00000311550.10:c.1080+15A>G MANE Select | ENSP00000308725.5:n.1080+15A>G | |
| ENST00000635832.1:n.1123+15A>G | ||
| ENST00000635994.1:c.763+15A>G | ||
| ENST00000636466.1:c.825+15A>G | ENSP00000489768.1:n.825+15A>G | |
| ENST00000638099.1:c.981+15A>G | ENSP00000490678.1:n.981+15A>G | |
| ENST00000299267.8:c.1080+15A>G | ENSP00000299267.4:n.1080+15A>G | |
| ENST00000311550.9:c.1080+15A>G | ENSP00000308725.5:n.1080+15A>G | |
| ENST00000400188.7:c.867+15A>G | ENSP00000383049.3:n.867+15A>G | |
| ENST00000541819.6:c.1248+15A>G | ENSP00000442408.2:n.1248+15A>G | |
| ENST00000545868.4:c.825+15A>G | ENSP00000439169.1:n.825+15A>G | |
| ENST00000555094.5:n.992+15A>G | ||
| ENST00000555632.5:c.*912+15A>G | ENSP00000452041.1:n.*912+15A>G | |
| ENST00000622697.4:c.825+15A>G | ENSP00000481004.1:n.825+15A>G | |
| ENST00000628124.2:c.825+15A>G | ENSP00000486819.1:n.825+15A>G | |
| NM_000814.5:c.1080+15A>G | NP_000805.1:n.1080+15A>G | |
| NM_001191320.1:c.825+15A>G | NP_001178249.1:n.825+15A>G | |
| NM_001191321.2:c.867+15A>G | NP_001178250.1:n.867+15A>G | |
| NM_001278631.1:c.825+15A>G | NP_001265560.1:n.825+15A>G | |
| NM_021912.4:c.1080+15A>G | NP_068712.1:n.1080+15A>G | |
| XM_011521428.1:c.903+15A>G | XP_011519730.1:n.903+15A>G | |
| XM_011521428.3:c.903+15A>G | XP_011519730.1:n.903+15A>G | |
| NM_000814.6:c.1080+15A>G MANE Select | NP_000805.1:n.1080+15A>G | |
| NM_001191321.3:c.867+15A>G | NP_001178250.1:n.867+15A>G | |
| NM_021912.5:c.1080+15A>G | NP_068712.1:n.1080+15A>G | |
| NM_001191320.2:c.825+15A>G | NP_001178249.1:n.825+15A>G | |
| NM_001278631.2:c.825+15A>G | NP_001265560.1:n.825+15A>G |