Linked Data
dbSNP Id:
rs11564386
gnomAD v2:
18-25700791-T-C
gnomAD v3:
18-28120827-T-C
gnomAD v4:
18-28120827-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.28120827T>C , CM000680.2:g.28120827T>C | GRCh38 |
| NC_000018.9:g.25700791T>C , CM000680.1:g.25700791T>C | GRCh37 |
| NC_000018.8:g.23954789T>C | NCBI36 |
| NG_011959.1:g.61655A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269141.8:c.172+26846A>G MANE Select | ENSP00000269141.3:n.172+26846A>G | |
| ENST00000413878.2:c.-84+26846A>G | ENSP00000414269.2:n.-84+26846A>G | |
| ENST00000430882.6:c.-275-23573A>G | ENSP00000412120.2:n.-275-23573A>G | |
| ENST00000675708.1:c.-84+26846A>G | ENSP00000501654.1:n.-84+26846A>G | |
| ENST00000676445.1:c.-84+26846A>G | ENSP00000502206.1:n.-84+26846A>G | |
| ENST00000269141.7:c.172+26846A>G | ENSP00000269141.3:n.172+26846A>G | |
| ENST00000413878.1:c.-84+26846A>G | ENSP00000414269.1:n.-84+26846A>G | |
| NM_001792.3:c.172+26846A>G | NP_001783.2:n.172+26846A>G | |
| NM_001792.4:c.172+26846A>G | NP_001783.2:n.172+26846A>G | |
| XM_005258181.2:c.118+26846A>G | XP_005258238.1:n.118+26846A>G | |
| XM_011525787.1:c.118+26846A>G | XP_011524089.1:n.118+26846A>G | |
| XM_011525788.1:c.-84+26846A>G | XP_011524090.1:n.-84+26846A>G | |
| XM_017025514.2:c.172+26846A>G | XP_016881003.1:n.172+26846A>G | |
| NM_001792.5:c.172+26846A>G MANE Select | NP_001783.2:n.172+26846A>G |