Linked Data
ClinVar Variation Id:
2305281
ClinVar RCV Id:
RCV004151107
dbSNP Id:
rs1318241342
gnomAD v3:
13-52397415-T-C
gnomAD v4:
13-52397415-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52397415T>C , CM000675.2:g.52397415T>C | GRCh38 |
| NC_000013.10:g.52971550T>C , CM000675.1:g.52971550T>C | GRCh37 |
| NC_000013.9:g.51869551T>C | NCBI36 |
| NG_047168.1:g.14080A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258613.5:c.838A>G MANE Select | ENSP00000258613.4:p.Arg280Gly | |
| ENST00000648254.1:c.838A>G | ENSP00000497520.1:p.Arg280Gly | |
| ENST00000258613.4:c.838A>G | ENSP00000258613.4:p.Arg280Gly | |
| ENST00000349258.8:c.838A>G | ENSP00000340650.4:p.Arg280Gly | |
| NM_018676.3:c.838A>G | NP_061146.1:p.Arg280Gly | |
| NM_199263.2:c.838A>G | NP_954872.1:p.Arg280Gly | |
| NM_018676.4:c.838A>G MANE Select | NP_061146.1:p.Arg280Gly | |
| NM_199263.3:c.838A>G | NP_954872.1:p.Arg280Gly |