Linked Data
ClinVar Variation Id:
238188
dbSNP Id:
rs200137318
ExAC:
15:26793291 C / T
gnomAD v2:
15-26793291-C-T
gnomAD v3:
15-26548144-C-T
gnomAD v4:
15-26548144-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26548144C>T , CM000677.2:g.26548144C>T | GRCh38 |
| NC_000015.9:g.26793291C>T , CM000677.1:g.26793291C>T | GRCh37 |
| NC_000015.8:g.24344384C>T | NCBI36 |
| NG_012836.1:g.230637G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299267.9:c.1081-10G>A | ENSP00000299267.4:n.1081-10G>A | |
| ENST00000311550.10:c.1081-10G>A MANE Select | ENSP00000308725.5:n.1081-10G>A | |
| ENST00000635832.1:n.1124-10G>A | ||
| ENST00000635994.1:c.902-10G>A | ||
| ENST00000636466.1:c.826-10G>A | ENSP00000489768.1:n.826-10G>A | |
| ENST00000637293.1:n.45-10G>A | ||
| ENST00000638099.1:c.982-10G>A | ENSP00000490678.1:n.982-10G>A | |
| ENST00000299267.8:c.1081-10G>A | ENSP00000299267.4:n.1081-10G>A | |
| ENST00000311550.9:c.1081-10G>A | ENSP00000308725.5:n.1081-10G>A | |
| ENST00000400188.7:c.868-10G>A | ENSP00000383049.3:n.868-10G>A | |
| ENST00000541819.6:c.1249-10G>A | ENSP00000442408.2:n.1249-10G>A | |
| ENST00000545868.4:c.826-10G>A | ENSP00000439169.1:n.826-10G>A | |
| ENST00000555094.5:n.993-10G>A | ||
| ENST00000555632.5:c.*913-10G>A | ENSP00000452041.1:n.*913-10G>A | |
| ENST00000622697.4:c.826-10G>A | ENSP00000481004.1:n.826-10G>A | |
| ENST00000628124.2:c.826-10G>A | ENSP00000486819.1:n.826-10G>A | |
| NM_000814.5:c.1081-10G>A | NP_000805.1:n.1081-10G>A | |
| NM_001191320.1:c.826-10G>A | NP_001178249.1:n.826-10G>A | |
| NM_001191321.2:c.868-10G>A | NP_001178250.1:n.868-10G>A | |
| NM_001278631.1:c.826-10G>A | NP_001265560.1:n.826-10G>A | |
| NM_021912.4:c.1081-10G>A | NP_068712.1:n.1081-10G>A | |
| XM_011521428.1:c.904-10G>A | XP_011519730.1:n.904-10G>A | |
| XM_011521428.3:c.904-10G>A | XP_011519730.1:n.904-10G>A | |
| NM_000814.6:c.1081-10G>A MANE Select | NP_000805.1:n.1081-10G>A | |
| NM_001191321.3:c.868-10G>A | NP_001178250.1:n.868-10G>A | |
| NM_021912.5:c.1081-10G>A | NP_068712.1:n.1081-10G>A | |
| NM_001191320.2:c.826-10G>A | NP_001178249.1:n.826-10G>A | |
| NM_001278631.2:c.826-10G>A | NP_001265560.1:n.826-10G>A |