Linked Data
ClinVar Variation Id:
519775
dbSNP Id:
rs137854466
ExAC:
15:48703477 G / C
gnomAD v2:
15-48703477-G-C
gnomAD v4:
15-48411280-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411280G>C , CM000677.2:g.48411280G>C | GRCh38 |
| NC_000015.9:g.48703477G>C , CM000677.1:g.48703477G>C | GRCh37 |
| NC_000015.8:g.46490769G>C | NCBI36 |
| NG_008805.2:g.239509C>G , LRG_778:g.239509C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.*1134C>G | ENSP00000453958.2:n.*1134C>G | |
| ENST00000674301.2:c.*1839C>G | ENSP00000501333.2:n.*1839C>G | |
| ENST00000682158.1:n.1707C>G | ||
| ENST00000682170.1:n.2507C>G | ||
| ENST00000682767.1:n.1623C>G | ||
| ENST00000316623.10:c.8326C>G MANE Select | ENSP00000325527.5:p.Arg2776Gly | |
| ENST00000674301.1:c.3492C>G | ENSP00000501333.1:n.3492C>G | |
| ENST00000316623.9:c.8326C>G | ENSP00000325527.5:p.Arg2776Gly | |
| ENST00000559133.5:c.3695C>G | ||
| ENST00000561429.1:n.581C>G | ||
| NM_000138.4:c.8326C>G , LRG_778t1:c.8326C>G | NP_000129.3:p.Arg2776Gly | |
| NM_000138.5:c.8326C>G MANE Select | NP_000129.3:p.Arg2776Gly |