Linked Data
dbSNP Id:
rs11684404
gnomAD v2:
2-88924622-T-C
gnomAD v3:
2-88625104-T-C
gnomAD v4:
2-88625104-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88625104T>C , CM000664.2:g.88625104T>C | GRCh38 |
| NC_000002.11:g.88924622T>C , CM000664.1:g.88924622T>C | GRCh37 |
| NC_000002.10:g.88705737T>C | NCBI36 |
| NG_016424.1:g.7473A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682892.1:c.-145-11251A>G | ENSP00000507214.1:n.-145-11251A>G | |
| ENST00000303236.9:c.308+1863A>G MANE Select | ENSP00000307235.3:n.308+1863A>G | |
| ENST00000652099.1:c.306+1863A>G | ||
| ENST00000652423.1:c.184+1863A>G | ENSP00000498948.1:n.184+1863A>G | |
| ENST00000303236.7:c.308+1863A>G | ENSP00000307235.3:n.308+1863A>G | |
| NM_004836.5:c.308+1863A>G | NP_004827.4:n.308+1863A>G | |
| NM_004836.6:c.308+1863A>G | NP_004827.4:n.308+1863A>G | |
| XR_939749.1:n.517+1863A>G | ||
| XM_017005376.2:c.-573+1863A>G | XP_016860865.1:n.-573+1863A>G | |
| NM_004836.7:c.308+1863A>G MANE Select | NP_004827.4:n.308+1863A>G |