Linked Data
ClinVar Variation Id:
2047852
ClinVar RCV Id:
RCV002918354
dbSNP Id:
rs2030845781
gnomAD v4:
2-189564007-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189564007T>C , CM000664.2:g.189564007T>C | GRCh38 |
| NC_000002.11:g.190428733T>C , CM000664.1:g.190428733T>C | GRCh37 |
| NC_000002.10:g.190136978T>C | NCBI36 |
| NG_009027.1:g.21805A>G , LRG_837:g.21805A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.979A>G MANE Select | ENSP00000261024.3:p.Ile327Val | |
| ENST00000261024.6:c.979A>G | ENSP00000261024.2:p.Ile327Val | |
| NM_014585.5:c.979A>G , LRG_837t1:c.979A>G | NP_055400.1:p.Ile327Val | |
| XM_005246505.1:c.859A>G | XP_005246562.1:p.Ile287Val | |
| XM_005246505.2:c.859A>G | XP_005246562.1:p.Ile287Val | |
| XM_017003938.2:c.859A>G | XP_016859427.1:p.Ile287Val | |
| NM_014585.6:c.979A>G MANE Select | NP_055400.1:p.Ile327Val |