Linked Data
dbSNP Id:
rs142325105
gnomAD v2:
2-208473129-A-G
gnomAD v3:
2-207608405-A-G
gnomAD v4:
2-207608405-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.207608405A>G , CM000664.2:g.207608405A>G | GRCh38 |
| NC_000002.11:g.208473129A>G , CM000664.1:g.208473129A>G | GRCh37 |
| NC_000002.10:g.208181374A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425132.5:c.259+13401T>C | ENSP00000400730.1:n.259+13401T>C | |
| ENST00000432416.5:c.259+13401T>C | ENSP00000416570.1:n.259+13401T>C | |
| ENST00000458426.5:c.259+13401T>C | ENSP00000389684.1:n.259+13401T>C | |
| NM_001308021.1:c.259+13401T>C | NP_001294950.1:n.259+13401T>C | |
| XM_011510727.1:c.334+13401T>C | XP_011509029.1:n.334+13401T>C | |
| XM_011510728.1:c.334+13401T>C | XP_011509030.1:n.334+13401T>C | |
| XM_011510729.1:c.388+12236T>C | XP_011509031.1:n.388+12236T>C | |
| NM_001308021.2:c.259+13401T>C | NP_001294950.1:n.259+13401T>C | |
| NM_001330131.1:c.259+13401T>C | NP_001317060.1:n.259+13401T>C | |
| NM_001330132.1:c.259+13401T>C | NP_001317061.1:n.259+13401T>C | |
| NM_001330133.1:c.259+13401T>C | NP_001317062.1:n.259+13401T>C | |
| NM_001330135.1:c.259+13401T>C | NP_001317064.1:n.259+13401T>C | |
| NM_001330136.1:c.259+13401T>C | NP_001317065.1:n.259+13401T>C | |
| XM_011510727.3:c.334+13401T>C | XP_011509029.1:n.334+13401T>C | |
| XM_011510728.3:c.334+13401T>C | XP_011509030.1:n.334+13401T>C | |
| XM_011510729.2:c.388+12236T>C | XP_011509031.1:n.388+12236T>C | |
| XM_017003445.1:c.334+13401T>C | XP_016858934.1:n.334+13401T>C | |
| XM_024452724.1:c.259+13401T>C | XP_024308492.1:n.259+13401T>C | |
| XM_024452725.1:c.259+13401T>C | XP_024308493.1:n.259+13401T>C | |
| XM_024452726.1:c.313+12236T>C | XP_024308494.1:n.313+12236T>C | |
| NM_001308021.3:c.259+13401T>C | NP_001294950.1:n.259+13401T>C | |
| NM_001330131.2:c.259+13401T>C | NP_001317060.1:n.259+13401T>C | |
| NM_001330135.2:c.259+13401T>C | NP_001317064.1:n.259+13401T>C | |
| NM_001330132.3:c.259+13401T>C | NP_001317061.1:n.259+13401T>C | |
| NM_001330133.3:c.259+13401T>C | NP_001317062.1:n.259+13401T>C | |
| NM_001330136.3:c.259+13401T>C | NP_001317065.1:n.259+13401T>C | |
| NM_001388427.1:c.259+13401T>C | NP_001375356.1:n.259+13401T>C | |
| NM_001388439.2:c.259+13401T>C | NP_001375368.1:n.259+13401T>C | |
| NM_001393563.1:c.313+12236T>C | NP_001380492.1:n.313+12236T>C | |
| NM_001393564.1:c.259+13401T>C | NP_001380493.1:n.259+13401T>C | |
| NM_001393565.1:c.259+13401T>C | NP_001380494.1:n.259+13401T>C | |
| NM_001393566.1:c.259+13401T>C | NP_001380495.1:n.259+13401T>C | |
| NM_001393567.1:c.259+13401T>C | NP_001380496.1:n.259+13401T>C | |
| NM_001393568.1:c.314-11291T>C | NP_001380497.1:n.314-11291T>C | |
| NM_001393569.1:c.313+12236T>C | NP_001380498.1:n.313+12236T>C | |
| NM_001393570.1:c.313+12236T>C | NP_001380499.1:n.313+12236T>C | |
| NM_001393571.1:c.260-11291T>C | NP_001380500.1:n.260-11291T>C | |
| NM_001393572.1:c.260-11291T>C | NP_001380501.1:n.260-11291T>C | |
| NM_001393573.1:c.259+13401T>C | NP_001380502.1:n.259+13401T>C | |
| NM_001393574.1:c.259+13401T>C | NP_001380503.1:n.259+13401T>C | |
| NM_001393575.1:c.259+13401T>C | NP_001380504.1:n.259+13401T>C |