Linked Data
ClinVar Variation Id:
263330
dbSNP Id:
rs754992689
ExAC:
15:48714189 T / C
gnomAD v2:
15-48714189-T-C
gnomAD v4:
15-48421992-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421992T>C , CM000677.2:g.48421992T>C | GRCh38 |
| NC_000015.9:g.48714189T>C , CM000677.1:g.48714189T>C | GRCh37 |
| NC_000015.8:g.46501481T>C | NCBI36 |
| NG_008805.2:g.228797A>G , LRG_778:g.228797A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*338A>G | ENSP00000453958.2:n.*338A>G | |
| ENST00000674301.2:c.*1043A>G | ENSP00000501333.2:n.*1043A>G | |
| ENST00000682170.1:n.1711A>G | ||
| ENST00000682767.1:n.827A>G | ||
| ENST00000316623.10:c.7530A>G MANE Select | ENSP00000325527.5:p.Lys2510= | |
| ENST00000674301.1:c.2696A>G | ENSP00000501333.1:n.2696A>G | |
| ENST00000316623.9:c.7530A>G | ENSP00000325527.5:p.Lys2510= | |
| ENST00000559133.5:c.2899A>G | ||
| NM_000138.4:c.7530A>G , LRG_778t1:c.7530A>G | NP_000129.3:p.Lys2510= | |
| NM_000138.5:c.7530A>G MANE Select | NP_000129.3:p.Lys2510= |