Linked Data
ClinVar Variation Id:
424662
dbSNP Id:
rs755533568
ExAC:
7:99702495 A / G
gnomAD v2:
7-99702495-A-G
gnomAD v3:
7-100104872-A-G
gnomAD v4:
7-100104872-A-G
PubMed:
PMID:28832565
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100104872A>G , CM000669.2:g.100104872A>G | GRCh38 |
| NC_000007.13:g.99702495A>G , CM000669.1:g.99702495A>G | GRCh37 |
| NC_000007.12:g.99540431A>G | NCBI36 |
| NG_016312.1:g.8366A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.607-2A>G | ENSP00000393723.2:n.607-2A>G | |
| ENST00000495154.2:n.866-2A>G | ||
| ENST00000713591.1:c.607-2A>G | ENSP00000518888.1:n.607-2A>G | |
| ENST00000359593.9:c.607-2A>G MANE Select | ENSP00000352603.4:n.607-2A>G | |
| ENST00000359593.8:c.607-2A>G | ENSP00000352603.4:n.607-2A>G | |
| ENST00000416938.5:c.563-173A>G | ||
| ENST00000421755.5:c.607-2A>G | ENSP00000412185.1:n.607-2A>G | |
| ENST00000422582.5:c.223-2A>G | ENSP00000406676.1:n.223-2A>G | |
| ENST00000429084.5:c.628-2A>G | ENSP00000403663.1:n.628-2A>G | |
| ENST00000438383.5:c.403-2A>G | ENSP00000401613.1:n.403-2A>G | |
| ENST00000439416.5:c.475-2A>G | ENSP00000414286.1:n.475-2A>G | |
| ENST00000445208.5:c.*216-2A>G | ENSP00000400598.1:n.*216-2A>G | |
| ENST00000446007.5:c.607-368A>G | ENSP00000396928.1:n.607-368A>G | |
| ENST00000463195.5:n.681-173A>G | ||
| ENST00000479916.1:n.189-2A>G | ||
| NM_004722.3:c.607-2A>G | NP_004713.2:n.607-2A>G | |
| XM_005250689.3:c.628-2A>G | XP_005250746.1:n.628-2A>G | |
| XM_005250690.3:c.403-2A>G | XP_005250747.1:n.403-2A>G | |
| XM_006716175.2:c.628-2A>G | XP_006716238.1:n.628-2A>G | |
| XM_011516685.1:c.628-2A>G | XP_011514987.1:n.628-2A>G | |
| XM_011516686.1:c.223-2A>G | XP_011514988.1:n.223-2A>G | |
| XM_011516687.1:c.-2-173A>G | XP_011514989.1:n.-2-173A>G | |
| NM_001363671.1:c.628-2A>G | NP_001350600.1:n.628-2A>G | |
| XM_005250689.4:c.628-2A>G | XP_005250746.1:n.628-2A>G | |
| XM_005250690.4:c.403-2A>G | XP_005250747.1:n.403-2A>G | |
| XM_006716175.4:c.628-2A>G | XP_006716238.1:n.628-2A>G | |
| XM_017012790.2:c.223-2A>G | XP_016868279.1:n.223-2A>G | |
| XM_017012791.2:c.-2-173A>G | XP_016868280.1:n.-2-173A>G | |
| XM_024446995.1:c.607-2A>G | XP_024302763.1:n.607-2A>G | |
| XM_024446996.1:c.-2-173A>G | XP_024302764.1:n.-2-173A>G | |
| NM_004722.4:c.607-2A>G MANE Select | NP_004713.2:n.607-2A>G | |
| NM_001363671.2:c.628-2A>G | NP_001350600.1:n.628-2A>G |