Linked Data
dbSNP Id:
rs958977074
gnomAD v2:
15-48714513-T-C
gnomAD v3:
15-48422316-T-C
gnomAD v4:
15-48422316-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48422316T>C , CM000677.2:g.48422316T>C | GRCh38 |
| NC_000015.9:g.48714513T>C , CM000677.1:g.48714513T>C | GRCh37 |
| NC_000015.8:g.46501805T>C | NCBI36 |
| NG_008805.2:g.228473A>G , LRG_778:g.228473A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*262-248A>G | ENSP00000453958.2:n.*262-248A>G | |
| ENST00000674301.2:c.*967-248A>G | ENSP00000501333.2:n.*967-248A>G | |
| ENST00000682170.1:n.1635-248A>G | ||
| ENST00000682767.1:n.751-248A>G | ||
| ENST00000316623.10:c.7454-248A>G MANE Select | ENSP00000325527.5:n.7454-248A>G | |
| ENST00000674301.1:c.2620-248A>G | ENSP00000501333.1:n.2620-248A>G | |
| ENST00000316623.9:c.7454-248A>G | ENSP00000325527.5:n.7454-248A>G | |
| ENST00000559133.5:c.2823-248A>G | ||
| NM_000138.4:c.7454-248A>G , LRG_778t1:c.7454-248A>G | NP_000129.3:n.7454-248A>G | |
| NM_000138.5:c.7454-248A>G MANE Select | NP_000129.3:n.7454-248A>G |