Linked Data
ClinVar Variation Id:
640123
ClinVar RCV Id:
RCV000793080
dbSNP Id:
rs922957538
gnomAD v2:
3-52485464-T-C
gnomAD v3:
3-52451448-T-C
gnomAD v4:
3-52451448-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451448T>C , CM000665.2:g.52451448T>C | GRCh38 |
| NC_000003.11:g.52485464T>C , CM000665.1:g.52485464T>C | GRCh37 |
| NC_000003.10:g.52460504T>C | NCBI36 |
| NG_008963.1:g.7594A>G , LRG_378:g.7594A>G | |
| NG_033112.1:g.941T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.397A>G MANE Select | ENSP00000232975.3:p.Ile133Val | |
| ENST00000232975.7:c.397A>G | ENSP00000232975.3:p.Ile133Val | |
| ENST00000461086.1:n.328A>G | ||
| ENST00000496590.1:c.265A>G | ENSP00000420596.1:p.Ile89Val | |
| NM_003280.2:c.397A>G , LRG_378t1:c.397A>G | NP_003271.1:p.Ile133Val | |
| NM_003280.3:c.397A>G MANE Select | NP_003271.1:p.Ile133Val |