Linked Data
ClinVar Variation Id:
1169864
dbSNP Id:
rs2276599
ExAC:
2:25469913 C / T
gnomAD v2:
2-25469913-C-T
gnomAD v3:
2-25247044-C-T
gnomAD v4:
2-25247044-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25247044C>T , CM000664.2:g.25247044C>T | GRCh38 |
| NC_000002.11:g.25469913C>T , CM000664.1:g.25469913C>T | GRCh37 |
| NC_000002.10:g.25323417C>T | NCBI36 |
| NG_029465.2:g.100547G>A , LRG_459:g.100547G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683393.1:c.228+7G>A | ENSP00000508654.1:n.228+7G>A | |
| ENST00000683760.1:c.453+7G>A | ENSP00000507765.1:n.453+7G>A | |
| ENST00000321117.10:c.1122+7G>A MANE Select | ENSP00000324375.5:n.1122+7G>A | |
| ENST00000264709.7:c.1122+7G>A | ENSP00000264709.3:n.1122+7G>A | |
| ENST00000321117.9:c.1122+7G>A | ENSP00000324375.5:n.1122+7G>A | |
| ENST00000380746.8:c.555+7G>A | ENSP00000370122.4:n.555+7G>A | |
| ENST00000380756.7:c.1122+7G>A | ENSP00000370132.3:n.1122+7G>A | |
| ENST00000402667.1:c.453+7G>A | ENSP00000384237.1:n.453+7G>A | |
| ENST00000470983.5:n.569+7G>A | ||
| ENST00000474807.5:n.417+7G>A | ||
| ENST00000484184.1:n.516+7G>A | ||
| NM_022552.4:c.1122+7G>A , LRG_459t1:c.1122+7G>A | NP_072046.2:n.1122+7G>A | |
| NM_153759.3:c.555+7G>A , LRG_459t2:c.555+7G>A | NP_715640.2:n.555+7G>A | |
| NM_175629.2:c.1122+7G>A , LRG_459t4:c.1122+7G>A | NP_783328.1:n.1122+7G>A | |
| XM_005264175.3:c.1122+7G>A | XP_005264232.1:n.1122+7G>A | |
| XM_005264177.3:c.453+7G>A | XP_005264234.1:n.453+7G>A | |
| XM_006711957.2:c.1122+7G>A | XP_006712020.1:n.1122+7G>A | |
| XM_006711958.2:c.678+7G>A | XP_006712021.1:n.678+7G>A | |
| XM_011532662.1:c.975+7G>A | XP_011530964.1:n.975+7G>A | |
| XM_011532663.1:c.957+7G>A | XP_011530965.1:n.957+7G>A | |
| XM_011532664.1:c.1122+7G>A | XP_011530966.1:n.1122+7G>A | |
| XM_011532665.1:c.666+7G>A | XP_011530967.1:n.666+7G>A | |
| XM_011532666.1:c.594+7G>A | XP_011530968.1:n.594+7G>A | |
| XM_011532667.1:c.453+7G>A | XP_011530969.1:n.453+7G>A | |
| XM_011532668.1:c.1122+7G>A | XP_011530970.1:n.1122+7G>A | |
| NM_001320893.1:c.666+7G>A | NP_001307822.1:n.666+7G>A | |
| NR_135490.1:n.1460+7G>A | ||
| XM_005264175.5:c.1122+7G>A | XP_005264232.1:n.1122+7G>A | |
| XM_005264177.4:c.453+7G>A | XP_005264234.1:n.453+7G>A | |
| XM_011532662.2:c.975+7G>A | XP_011530964.1:n.975+7G>A | |
| XM_011532663.2:c.957+7G>A | XP_011530965.1:n.957+7G>A | |
| XM_011532664.2:c.1122+7G>A | XP_011530966.1:n.1122+7G>A | |
| XM_011532666.2:c.594+7G>A | XP_011530968.1:n.594+7G>A | |
| XM_011532667.3:c.453+7G>A | XP_011530969.1:n.453+7G>A | |
| XM_017003526.1:c.1122+7G>A | XP_016859015.1:n.1122+7G>A | |
| XM_017003527.1:c.453+7G>A | XP_016859016.1:n.453+7G>A | |
| XR_001738657.1:n.1399+7G>A | ||
| NM_001375819.1:c.453+7G>A | NP_001362748.1:n.453+7G>A | |
| NR_135490.2:n.1353+7G>A | ||
| NM_022552.5:c.1122+7G>A MANE Select | NP_072046.2:n.1122+7G>A |