Linked Data
ClinVar Variation Id:
459989
ClinVar RCV Id:
RCV000537398
dbSNP Id:
rs759237061
ExAC:
6:24503635 A / G
gnomAD v2:
6-24503635-A-G
gnomAD v3:
6-24503407-A-G
gnomAD v4:
6-24503407-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503407A>G , CM000668.2:g.24503407A>G | GRCh38 |
| NC_000006.11:g.24503635A>G , CM000668.1:g.24503635A>G | GRCh37 |
| NC_000006.10:g.24611614A>G | NCBI36 |
| NG_008161.1:g.13439A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.583A>G MANE Select | ENSP00000350191.3:p.Ile195Val | |
| ENST00000672352.1:c.346A>G | ENSP00000500876.1:p.Ile116Val | |
| ENST00000672557.1:c.501A>G | ||
| ENST00000672652.1:c.504A>G | ||
| ENST00000675422.1:n.1343A>G | ||
| ENST00000348925.2:c.583A>G | ENSP00000314649.3:p.Ile195Val | |
| ENST00000357578.7:c.583A>G | ENSP00000350191.3:p.Ile195Val | |
| ENST00000491546.5:c.499A>G | ENSP00000417687.1:p.Ile167Val | |
| NM_001080.3:c.583A>G MANE Select | NP_001071.1:p.Ile195Val | |
| NM_170740.1:c.583A>G | NP_733936.1:p.Ile195Val | |
| NM_001368954.1:c.583A>G | NP_001355883.1:p.Ile195Val |