Linked Data
ClinVar Variation Id:
649917
ClinVar RCV Id:
RCV000804963
dbSNP Id:
rs1573120422
gnomAD v4:
2-29220802-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220802A>C , CM000664.2:g.29220802A>C | GRCh38 |
| NC_000002.11:g.29443668A>C , CM000664.1:g.29443668A>C | GRCh37 |
| NC_000002.10:g.29297172A>C | NCBI36 |
| NG_009445.1:g.705765T>G , LRG_488:g.705765T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3549T>G MANE Select | ENSP00000373700.3:p.Ile1183Met | |
| ENST00000431873.6:c.776T>G | ||
| ENST00000638605.1:n.426T>G | ||
| ENST00000642122.1:c.345T>G | ENSP00000493203.1:p.Ile115Met | |
| ENST00000389048.7:c.3549T>G | ENSP00000373700.3:p.Ile1183Met | |
| ENST00000431873.5:c.429T>G | ENSP00000414027.2:p.Ile143Met | |
| ENST00000618119.4:c.2418T>G | ENSP00000482733.1:p.Ile806Met | |
| NM_004304.4:c.3549T>G | NP_004295.2:p.Ile1183Met | |
| NM_001353765.1:c.345T>G | NP_001340694.1:p.Ile115Met | |
| XM_024452778.1:c.702T>G | XP_024308546.1:p.Ile234Met | |
| XM_024452779.1:c.345T>G | XP_024308547.1:p.Ile115Met | |
| NM_004304.5:c.3549T>G MANE Select | NP_004295.2:p.Ile1183Met | |
| NM_001353765.2:c.345T>G | NP_001340694.1:p.Ile115Met |