Linked Data
ClinVar Variation Id:
384772
dbSNP Id:
rs142979302
ExAC:
2:55864752 A / T
gnomAD v2:
2-55864752-A-T
gnomAD v3:
2-55637617-A-T
gnomAD v4:
2-55637617-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55637617A>T , CM000664.2:g.55637617A>T | GRCh38 |
| NC_000002.11:g.55864752A>T , CM000664.1:g.55864752A>T | GRCh37 |
| NC_000002.10:g.55718256A>T | NCBI36 |
| NG_033012.1:g.61294T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.2149-18T>A MANE Select | ENSP00000400646.2:n.2149-18T>A | |
| ENST00000260604.8:c.*1691-18T>A | ENSP00000260604.4:n.*1691-18T>A | |
| ENST00000415374.5:c.2149-18T>A | ENSP00000393953.1:n.2149-18T>A | |
| ENST00000447944.6:c.2149-18T>A | ENSP00000400646.2:n.2149-18T>A | |
| ENST00000481066.1:n.1211-18T>A | ||
| NM_033109.4:c.2149-18T>A | NP_149100.2:n.2149-18T>A | |
| XM_005264629.1:c.1909-18T>A | XP_005264686.1:n.1909-18T>A | |
| XM_005264629.2:c.1909-18T>A | XP_005264686.1:n.1909-18T>A | |
| XM_017005172.1:c.1909-18T>A | XP_016860661.1:n.1909-18T>A | |
| NM_033109.5:c.2149-18T>A MANE Select | NP_149100.2:n.2149-18T>A |