Linked Data
ClinVar Variation Id:
1412160
ClinVar RCV Id:
RCV001923113
dbSNP Id:
rs2117139774
gnomAD v4:
7-103545202-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103545202T>C , CM000669.2:g.103545202T>C | GRCh38 |
| NC_000007.13:g.103185649T>C , CM000669.1:g.103185649T>C | GRCh37 |
| NC_000007.12:g.102972885T>C | NCBI36 |
| NG_011877.1:g.449315A>G | |
| NG_011877.2:g.449315A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.6445A>G | ENSP00000388446.3:p.Ile2149Val | |
| ENST00000428762.6:c.6445A>G MANE Select | ENSP00000392423.1:p.Ile2149Val | |
| ENST00000679867.1:n.6329A>G | ||
| ENST00000679952.1:n.237A>G | ||
| ENST00000681034.1:c.6445A>G | ENSP00000506075.1:p.Ile2149Val | |
| ENST00000681199.1:n.2213A>G | ||
| ENST00000343529.9:c.6445A>G | ENSP00000345694.5:p.Ile2149Val | |
| ENST00000424685.2:c.6445A>G | ENSP00000388446.2:p.Ile2149Val | |
| ENST00000428762.5:c.6445A>G | ENSP00000392423.1:p.Ile2149Val | |
| NM_005045.3:c.6445A>G | NP_005036.2:p.Ile2149Val | |
| NM_173054.2:c.6445A>G | NP_774959.1:p.Ile2149Val | |
| NM_005045.4:c.6445A>G MANE Select | NP_005036.2:p.Ile2149Val | |
| NM_173054.3:c.6445A>G | NP_774959.1:p.Ile2149Val |