Linked Data
dbSNP Id:
rs1476571978
gnomAD v2:
7-87160600-T-C
gnomAD v3:
7-87531284-T-C
gnomAD v4:
7-87531284-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87531284T>C , CM000669.2:g.87531284T>C | GRCh38 |
| NC_000007.13:g.87160600T>C , CM000669.1:g.87160600T>C | GRCh37 |
| NC_000007.12:g.86998536T>C | NCBI36 |
| NG_011513.1:g.186965A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265724.8:c.2685+10A>G | ENSP00000265724.3:n.2685+10A>G | |
| ENST00000622132.5:c.2685+10A>G MANE Select | ENSP00000478255.1:n.2685+10A>G | |
| ENST00000265724.7:c.2685+10A>G | ENSP00000265724.3:n.2685+10A>G | |
| ENST00000488737.6:n.327+10A>G | ||
| ENST00000496821.5:n.313+10A>G | ||
| ENST00000543898.5:c.2493+10A>G | ENSP00000444095.1:n.2493+10A>G | |
| ENST00000622132.4:c.2685+10A>G | ENSP00000478255.1:n.2685+10A>G | |
| NM_000927.4:c.2685+10A>G | NP_000918.2:n.2685+10A>G | |
| NM_001348944.1:c.2685+10A>G | NP_001335873.1:n.2685+10A>G | |
| NM_001348945.1:c.2895+10A>G | NP_001335874.1:n.2895+10A>G | |
| NM_001348946.1:c.2685+10A>G | NP_001335875.1:n.2685+10A>G | |
| NM_001348946.2:c.2685+10A>G MANE Select | NP_001335875.1:n.2685+10A>G | |
| NM_000927.5:c.2685+10A>G | NP_000918.2:n.2685+10A>G | |
| NM_001348944.2:c.2685+10A>G | NP_001335873.1:n.2685+10A>G | |
| NM_001348945.2:c.2895+10A>G | NP_001335874.1:n.2895+10A>G |