Linked Data
ClinVar Variation Id:
379699
dbSNP Id:
rs139375856
ExAC:
17:8006813 T / C
gnomAD v2:
17-8006813-T-C
gnomAD v3:
17-8103495-T-C
gnomAD v4:
17-8103495-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8103495T>C , CM000679.2:g.8103495T>C | GRCh38 |
| NC_000017.10:g.8006813T>C , CM000679.1:g.8006813T>C | GRCh37 |
| NC_000017.9:g.7947538T>C | NCBI36 |
| NG_015807.1:g.20422A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318227.4:c.1786-2A>G | ENSP00000314879.4:n.1786-2A>G | |
| ENST00000380149.6:c.1786-2A>G | ENSP00000369494.2:n.1786-2A>G | |
| ENST00000448843.7:c.1786-2A>G MANE Select | ENSP00000400581.2:n.1786-2A>G | |
| ENST00000318227.3:c.2182-2A>G | ENSP00000314879.3:n.2182-2A>G | |
| ENST00000380149.5:c.2254-2A>G | ENSP00000369494.1:n.2254-2A>G | |
| ENST00000448843.6:c.1786-2A>G | ENSP00000400581.2:n.1786-2A>G | |
| ENST00000583808.1:n.21A>G | ||
| NM_001165960.1:c.2182-2A>G | NP_001159432.1:n.2182-2A>G | |
| NM_021628.2:c.1786-2A>G | NP_067641.2:n.1786-2A>G | |
| XR_001752579.2:n.1937-2A>G | ||
| XR_001752580.2:n.1848-2A>G | ||
| NM_001369446.1:c.1783-2A>G | NP_001356375.1:n.1783-2A>G | |
| NM_021628.3:c.1786-2A>G MANE Select | NP_067641.2:n.1786-2A>G |