Linked Data
ClinVar Variation Id:
1558545
ClinVar RCV Id:
RCV002200000
dbSNP Id:
rs145003796
gnomAD v2:
6-24503655-C-A
gnomAD v3:
6-24503427-C-A
gnomAD v4:
6-24503427-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503427C>A , CM000668.2:g.24503427C>A | GRCh38 |
| NC_000006.11:g.24503655C>A , CM000668.1:g.24503655C>A | GRCh37 |
| NC_000006.10:g.24611634C>A | NCBI36 |
| NG_008161.1:g.13459C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.603C>A MANE Select | ENSP00000350191.3:p.Ile201= | |
| ENST00000672352.1:c.366C>A | ENSP00000500876.1:p.Ile122= | |
| ENST00000672557.1:c.521C>A | ||
| ENST00000672652.1:c.524C>A | ||
| ENST00000675422.1:n.1363C>A | ||
| ENST00000348925.2:c.603C>A | ENSP00000314649.3:p.Ile201= | |
| ENST00000357578.7:c.603C>A | ENSP00000350191.3:p.Ile201= | |
| ENST00000491546.5:c.519C>A | ENSP00000417687.1:p.Ile173= | |
| NM_001080.3:c.603C>A MANE Select | NP_001071.1:p.Ile201= | |
| NM_170740.1:c.603C>A | NP_733936.1:p.Ile201= | |
| NM_001368954.1:c.603C>A | NP_001355883.1:p.Ile201= |