Linked Data
ClinVar Variation Id:
47969
dbSNP Id:
rs115970207
ExAC:
15:38641616 A / G
gnomAD v2:
15-38641616-A-G
gnomAD v3:
15-38349415-A-G
gnomAD v4:
15-38349415-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38349415A>G , CM000677.2:g.38349415A>G | GRCh38 |
| NC_000015.9:g.38641616A>G , CM000677.1:g.38641616A>G | GRCh37 |
| NC_000015.8:g.36428908A>G | NCBI36 |
| NG_008980.1:g.101565A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.583-7A>G MANE Select | ENSP00000299084.4:n.583-7A>G | |
| ENST00000299084.8:c.583-7A>G | ENSP00000299084.4:n.583-7A>G | |
| NM_152594.2:c.583-7A>G | NP_689807.1:n.583-7A>G | |
| XM_005254202.2:c.619-7A>G | XP_005254259.1:n.619-7A>G | |
| XM_005254203.3:c.361-7A>G | XP_005254260.1:n.361-7A>G | |
| XM_011521288.1:c.520-7A>G | XP_011519590.1:n.520-7A>G | |
| XM_011521289.1:c.520-7A>G | XP_011519591.1:n.520-7A>G | |
| XM_011521290.1:c.520-7A>G | XP_011519592.1:n.520-7A>G | |
| XM_005254202.3:c.619-7A>G | XP_005254259.1:n.619-7A>G | |
| XM_011521289.3:c.520-7A>G | XP_011519591.1:n.520-7A>G | |
| NM_152594.3:c.583-7A>G MANE Select | NP_689807.1:n.583-7A>G |