Linked Data
ClinVar Variation Id:
1640593
dbSNP Id:
rs775567721
ExAC:
17:27065031 G / C
gnomAD v2:
17-27065031-G-C
gnomAD v4:
17-28738013-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28738013G>C , CM000679.2:g.28738013G>C | GRCh38 |
| NC_000017.10:g.27065031G>C , CM000679.1:g.27065031G>C | GRCh37 |
| NC_000017.9:g.24089158G>C | NCBI36 |
| NG_012263.1:g.14200G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268766.11:c.1071+13G>C MANE Select | ENSP00000268766.6:n.1071+13G>C | |
| ENST00000268766.10:c.1071+13G>C | ENSP00000268766.6:n.1071+13G>C | |
| ENST00000543014.1:c.1231+13G>C | ENSP00000465859.1:n.1231+13G>C | |
| ENST00000592510.1:c.631+13G>C | ||
| NM_178170.2:c.1071+13G>C | NP_835464.1:n.1071+13G>C | |
| XM_011524638.1:c.1182+13G>C | XP_011522940.1:n.1182+13G>C | |
| XM_011524639.1:c.1155+13G>C | XP_011522941.1:n.1155+13G>C | |
| XM_011524640.1:c.1143+13G>C | XP_011522942.1:n.1143+13G>C | |
| XM_011524641.1:c.1038+13G>C | XP_011522943.1:n.1038+13G>C | |
| XM_011524642.1:c.1038+13G>C | XP_011522944.1:n.1038+13G>C | |
| XM_011524643.1:c.1038+13G>C | XP_011522945.1:n.1038+13G>C | |
| XM_011524644.1:c.861+13G>C | XP_011522946.1:n.861+13G>C | |
| XM_011524645.1:c.1309+13G>C | XP_011522947.1:n.1309+13G>C | |
| XR_934448.1:n.1359+13G>C | ||
| NM_178170.3:c.1071+13G>C MANE Select | NP_835464.1:n.1071+13G>C | |
| XM_011524638.3:c.1182+13G>C | XP_011522940.1:n.1182+13G>C | |
| XM_011524640.3:c.1143+13G>C | XP_011522942.1:n.1143+13G>C | |
| XM_017024499.2:c.1110+13G>C | XP_016879988.1:n.1110+13G>C | |
| XM_017024500.2:c.993+13G>C | XP_016879989.1:n.993+13G>C | |
| XM_017024501.1:c.1303+13G>C | XP_016879990.1:n.1303+13G>C | |
| XR_001752497.2:n.1314+13G>C |