Linked Data
dbSNP Id:
rs11989843
gnomAD v2:
8-118150993-A-G
gnomAD v3:
8-117138754-A-G
gnomAD v4:
8-117138754-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117138754A>G , CM000670.2:g.117138754A>G | GRCh38 |
| NC_000008.10:g.118150993A>G , CM000670.1:g.118150993A>G | GRCh37 |
| NC_000008.9:g.118220174A>G | NCBI36 |
| NG_016991.1:g.193482A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456015.7:c.71+3356A>G MANE Select | ENSP00000415011.2:n.71+3356A>G | |
| ENST00000427715.2:c.-107+3356A>G | ENSP00000407505.2:n.-107+3356A>G | |
| ENST00000456015.6:c.71+3356A>G | ENSP00000415011.2:n.71+3356A>G | |
| ENST00000518396.5:c.-107+3356A>G | ENSP00000485167.1:n.-107+3356A>G | |
| ENST00000518521.5:c.-77+3356A>G | ENSP00000485566.1:n.-77+3356A>G | |
| ENST00000519688.5:c.-107+3356A>G | ENSP00000431069.1:n.-107+3356A>G | |
| ENST00000520469.1:n.325+3356A>G | ||
| ENST00000521035.5:n.461+3356A>G | ||
| ENST00000521243.5:c.-106-8065A>G | ENSP00000428545.1:n.-106-8065A>G | |
| ENST00000524274.5:c.-106-8065A>G | ENSP00000427760.1:n.-106-8065A>G | |
| NM_001172811.1:c.-106-8065A>G | NP_001166282.1:n.-106-8065A>G | |
| NM_001172813.1:c.-107+3356A>G | NP_001166284.1:n.-107+3356A>G | |
| NM_001172814.1:c.-107+3356A>G | NP_001166285.1:n.-107+3356A>G | |
| NM_001172815.1:c.-107+3356A>G | NP_001166286.1:n.-107+3356A>G | |
| NM_173851.2:c.71+3356A>G | NP_776250.2:n.71+3356A>G | |
| XM_011516881.1:c.71+3356A>G | XP_011515183.1:n.71+3356A>G | |
| XR_928569.1:n.1020+33861T>C | ||
| XR_928570.1:n.1021-20968T>C | ||
| NM_001172815.2:c.-107+3356A>G | NP_001166286.1:n.-107+3356A>G | |
| XM_024447083.1:c.-106-8065A>G | XP_024302851.1:n.-106-8065A>G | |
| XR_928569.2:n.973+33861T>C | ||
| XR_928570.2:n.974-20968T>C | ||
| NM_001172811.2:c.-106-8065A>G | NP_001166282.1:n.-106-8065A>G | |
| NM_001172813.2:c.-107+3356A>G | NP_001166284.1:n.-107+3356A>G | |
| NM_001172814.2:c.-107+3356A>G | NP_001166285.1:n.-107+3356A>G | |
| NM_173851.3:c.71+3356A>G MANE Select | NP_776250.2:n.71+3356A>G | |
| NM_001172815.3:c.-107+3356A>G | NP_001166286.1:n.-107+3356A>G |