Linked Data
ClinVar Variation Id:
279863
dbSNP Id:
rs752761437
ExAC:
13:100955253 G / A
gnomAD v2:
13-100955253-G-A
gnomAD v3:
13-100302999-G-A
gnomAD v4:
13-100302999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100302999G>A , CM000675.2:g.100302999G>A | GRCh38 |
| NC_000013.10:g.100955253G>A , CM000675.1:g.100955253G>A | GRCh37 |
| NC_000013.9:g.99753254G>A | NCBI36 |
| NG_008768.1:g.218917G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.1284+1G>A MANE Select | ENSP00000365462.1:n.1284+1G>A | |
| ENST00000636366.1:c.944+29653G>A | ||
| ENST00000636420.1:c.1161+3G>A | ||
| ENST00000636475.1:c.945-27562G>A | ||
| ENST00000637657.1:c.945-4193G>A | ||
| ENST00000647303.1:c.*914-27562G>A | ENSP00000495663.1:n.*914-27562G>A | |
| ENST00000376279.7:c.1284+1G>A | ENSP00000365456.3:n.1284+1G>A | |
| ENST00000376285.5:c.1284+1G>A | ENSP00000365462.1:n.1284+1G>A | |
| ENST00000376286.8:c.1206+1G>A | ENSP00000365463.4:n.1206+1G>A | |
| ENST00000424527.5:c.31+9745G>A | ENSP00000396050.1:n.31+9745G>A | |
| NM_000282.3:c.1284+1G>A | NP_000273.2:n.1284+1G>A | |
| NM_001127692.2:c.1206+1G>A | NP_001121164.1:n.1206+1G>A | |
| NM_001178004.1:c.1284+1G>A | NP_001171475.1:n.1284+1G>A | |
| XM_005254059.2:c.1284+1G>A | XP_005254116.1:n.1284+1G>A | |
| XM_011521093.1:c.1284+1G>A | XP_011519395.1:n.1284+1G>A | |
| XR_931615.1:n.1385+1G>A | ||
| XR_931616.1:n.1385+1G>A | ||
| NM_001352605.1:c.1284+1G>A | NP_001339534.1:n.1284+1G>A | |
| NM_001352606.1:c.1140+1G>A | NP_001339535.1:n.1140+1G>A | |
| NM_001352607.1:c.1206+1G>A | NP_001339536.1:n.1206+1G>A | |
| NM_001352608.1:c.1062+1G>A | NP_001339537.1:n.1062+1G>A | |
| NM_001352609.1:c.1284+1G>A | NP_001339538.1:n.1284+1G>A | |
| NM_001352610.1:c.339+1G>A | NP_001339539.1:n.339+1G>A | |
| NM_001352611.1:c.339+1G>A | NP_001339540.1:n.339+1G>A | |
| NM_001352612.1:c.195+1G>A | NP_001339541.1:n.195+1G>A | |
| NR_148027.1:n.1390+1G>A | ||
| NR_148028.1:n.1390+1G>A | ||
| NR_148029.1:n.1312+1G>A | ||
| NR_148030.1:n.1390+1G>A | ||
| NR_148031.1:n.1390+1G>A | ||
| XM_017020605.1:c.1284+1G>A | XP_016876094.1:n.1284+1G>A | |
| XM_017020606.1:c.1206+1G>A | XP_016876095.1:n.1206+1G>A | |
| XM_017020607.1:c.1185+1G>A | XP_016876096.1:n.1185+1G>A | |
| XM_017020609.1:c.1185+1G>A | XP_016876098.1:n.1185+1G>A | |
| XM_017020611.1:c.1284+1G>A | XP_016876100.1:n.1284+1G>A | |
| XM_017020612.1:c.1284+1G>A | XP_016876101.1:n.1284+1G>A | |
| XM_017020613.1:c.1284+1G>A | XP_016876102.1:n.1284+1G>A | |
| XM_017020615.1:c.1284+1G>A | XP_016876104.1:n.1284+1G>A | |
| XM_017020616.1:c.1284+1G>A | XP_016876105.1:n.1284+1G>A | |
| XR_001749567.1:n.1385+1G>A | ||
| XR_001749568.1:n.1385+1G>A | ||
| XR_001749569.1:n.1385+1G>A | ||
| XR_001749574.1:n.1236+1G>A | ||
| XR_001749576.1:n.1167-27562G>A | ||
| XR_001749577.1:n.1167-27562G>A | ||
| NM_000282.4:c.1284+1G>A MANE Select | NP_000273.2:n.1284+1G>A | |
| NM_001352605.2:c.1284+1G>A | NP_001339534.1:n.1284+1G>A | |
| NM_001352606.2:c.1140+1G>A | NP_001339535.1:n.1140+1G>A | |
| NM_001352607.2:c.1206+1G>A | NP_001339536.1:n.1206+1G>A | |
| NM_001352608.2:c.1062+1G>A | NP_001339537.1:n.1062+1G>A | |
| NM_001352609.2:c.1284+1G>A | NP_001339538.1:n.1284+1G>A | |
| NM_001352610.2:c.339+1G>A | NP_001339539.1:n.339+1G>A | |
| NM_001352611.2:c.339+1G>A | NP_001339540.1:n.339+1G>A | |
| NM_001352612.2:c.195+1G>A | NP_001339541.1:n.195+1G>A | |
| NR_148027.2:n.1312+1G>A | ||
| NR_148028.2:n.1312+1G>A | ||
| NR_148029.2:n.1234+1G>A | ||
| NR_148030.2:n.1312+1G>A | ||
| NR_148031.2:n.1312+1G>A | ||
| NM_001127692.3:c.1206+1G>A | NP_001121164.1:n.1206+1G>A | |
| NM_001178004.2:c.1284+1G>A | NP_001171475.1:n.1284+1G>A |