Linked Data
ClinVar Variation Id:
2163513
ClinVar RCV Id:
RCV003073326
dbSNP Id:
rs377050453
ExAC:
10:50668409 T / C
gnomAD v2:
10-50668409-T-C
gnomAD v3:
10-49460363-T-C
gnomAD v4:
10-49460363-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49460363T>C , CM000672.2:g.49460363T>C | GRCh38 |
| NC_000010.10:g.50668409T>C , CM000672.1:g.50668409T>C | GRCh37 |
| NC_000010.9:g.50338415T>C | NCBI36 |
| NG_009442.1:g.83739A>G , LRG_465:g.83739A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.4062+10A>G MANE Select | ENSP00000348089.5:n.4062+10A>G | |
| ENST00000679552.1:n.1143A>G | ||
| ENST00000679871.1:n.1208+10A>G | ||
| ENST00000679974.1:n.1111+10A>G | ||
| ENST00000681632.1:n.5465+10A>G | ||
| ENST00000681659.1:c.3903+10A>G | ENSP00000505631.1:n.3903+10A>G | |
| ENST00000355832.9:c.4062+10A>G | ENSP00000348089.5:n.4062+10A>G | |
| ENST00000465653.1:n.394A>G | ||
| ENST00000623073.3:c.*2358+10A>G | ENSP00000485650.1:n.*2358+10A>G | |
| ENST00000623115.3:c.2172+10A>G | ENSP00000485321.1:n.2172+10A>G | |
| ENST00000624341.3:c.1894+10A>G | ||
| NM_000124.3:c.4062+10A>G | NP_000115.1:n.4062+10A>G | |
| XR_945953.1:n.243-11202T>C | ||
| NM_001346440.1:c.4062+10A>G | NP_001333369.1:n.4062+10A>G | |
| NM_000124.4:c.4062+10A>G MANE Select | NP_000115.1:n.4062+10A>G | |
| NM_001346440.2:c.4062+10A>G | NP_001333369.1:n.4062+10A>G |