Linked Data
ClinVar Variation Id:
1691710
ClinVar RCV Id:
RCV002255111
dbSNP Id:
rs2133880503
MutSpliceDB:
CA379789318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17523417A>C , CM000673.2:g.17523417A>C | GRCh38 |
| NC_000011.9:g.17544964A>C , CM000673.1:g.17544964A>C | GRCh37 |
| NC_000011.8:g.17501540A>C | NCBI36 |
| NG_011883.1:g.26000T>G | |
| NG_011883.2:g.26000T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.819+2T>G MANE Select | ENSP00000005226.7:n.819+2T>G | |
| ENST00000318024.9:c.819+2T>G MANE Plus Clinical | ENSP00000317018.4:n.819+2T>G | |
| ENST00000005226.11:c.819+2T>G | ENSP00000005226.7:n.819+2T>G | |
| ENST00000318024.8:c.819+2T>G | ENSP00000317018.4:n.819+2T>G | |
| ENST00000526181.1:c.852+2T>G | ENSP00000437128.1:n.852+2T>G | |
| ENST00000526313.5:c.819+2T>G | ENSP00000432236.1:n.819+2T>G | |
| ENST00000527020.5:c.819+2T>G | ENSP00000436934.1:n.819+2T>G | |
| ENST00000527720.5:c.726+2T>G | ENSP00000432944.1:n.726+2T>G | |
| NM_001297764.1:c.819+2T>G | NP_001284693.1:n.819+2T>G | |
| NM_005709.3:c.819+2T>G | NP_005700.2:n.819+2T>G | |
| NM_153676.3:c.819+2T>G | NP_710142.1:n.819+2T>G | |
| NR_123738.1:n.928+2T>G | ||
| XM_011519831.1:c.819+2T>G | XP_011518133.1:n.819+2T>G | |
| XM_011519832.1:c.819+2T>G | XP_011518134.1:n.819+2T>G | |
| XM_011519833.1:c.819+2T>G | XP_011518135.1:n.819+2T>G | |
| XM_011519834.1:c.819+2T>G | XP_011518136.1:n.819+2T>G | |
| XR_930841.1:n.928+2T>G | ||
| XR_930842.1:n.928+2T>G | ||
| XM_011519832.3:c.819+2T>G | XP_011518134.1:n.819+2T>G | |
| XM_011519834.2:c.819+2T>G | XP_011518136.1:n.819+2T>G | |
| XM_017017072.1:c.819+2T>G | XP_016872561.1:n.819+2T>G | |
| XM_017017073.1:c.819+2T>G | XP_016872562.1:n.819+2T>G | |
| XM_017017074.1:c.819+2T>G | XP_016872563.1:n.819+2T>G | |
| XM_017017075.1:c.819+2T>G | XP_016872564.1:n.819+2T>G | |
| XR_001747717.2:n.928+2T>G | ||
| NM_153676.4:c.819+2T>G MANE Select | NP_710142.1:n.819+2T>G | |
| NM_001297764.2:c.819+2T>G | NP_001284693.1:n.819+2T>G | |
| NM_005709.4:c.819+2T>G MANE Plus Clinical | NP_005700.2:n.819+2T>G | |
| NR_123738.2:n.928+2T>G |