Linked Data
ClinVar Variation Id:
316388
ClinVar RCV Id:
RCV000260937
RCV000300817
RCV000311219
RCV000324354
RCV000353445
RCV000358152
RCV000406479
RCV001220849
RCV001770257
dbSNP Id:
rs151056963
ExAC:
15:48818430 A / C
gnomAD v2:
15-48818430-A-C
gnomAD v3:
15-48526233-A-C
gnomAD v4:
15-48526233-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48526233A>C , CM000677.2:g.48526233A>C | GRCh38 |
| NC_000015.9:g.48818430A>C , CM000677.1:g.48818430A>C | GRCh37 |
| NC_000015.8:g.46605722A>C | NCBI36 |
| NG_008805.2:g.124556T>G , LRG_778:g.124556T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.885T>G | ENSP00000453958.2:p.Ile295Met | |
| ENST00000674301.2:c.885T>G | ENSP00000501333.2:p.Ile295Met | |
| ENST00000316623.10:c.885T>G MANE Select | ENSP00000325527.5:p.Ile295Met | |
| ENST00000316623.9:c.885T>G | ENSP00000325527.5:p.Ile295Met | |
| ENST00000537463.6:c.636+11478T>G | ENSP00000440294.2:n.636+11478T>G | |
| NM_000138.4:c.885T>G , LRG_778t1:c.885T>G | NP_000129.3:p.Ile295Met | |
| NM_000138.5:c.885T>G MANE Select | NP_000129.3:p.Ile295Met |