Linked Data
ClinVar Variation Id:
349205
dbSNP Id:
rs751678723
ExAC:
4:5803833 C / G
gnomAD v2:
4-5803833-C-G
gnomAD v3:
4-5802106-C-G
gnomAD v4:
4-5802106-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5802106C>G , CM000666.2:g.5802106C>G | GRCh38 |
| NC_000004.11:g.5803833C>G , CM000666.1:g.5803833C>G | GRCh37 |
| NC_000004.10:g.5854734C>G | NCBI36 |
| NG_008843.1:g.95910C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264956.11:c.2449+12C>G (EVC) MANE Select | ENSP00000264956.6:n.2449+12C>G | |
| ENST00000264956.10:c.2449+12C>G (EVC) | ENSP00000264956.6:n.2449+12C>G | |
| ENST00000506216.5:n.1647+23388G>C (CRMP1) | ||
| NM_001306090.1:c.2449+12C>G (EVC) | NP_001293019.1:n.2449+12C>G | |
| NM_153717.2:c.2449+12C>G (EVC) | NP_714928.1:n.2449+12C>G | |
| XM_006713865.2:c.2449+12C>G (EVC) | XP_006713928.1:n.2449+12C>G | |
| XM_006713866.2:c.2449+12C>G (EVC) | XP_006713929.1:n.2449+12C>G | |
| XR_427473.2:n.2639+12C>G (EVC) | ||
| XR_427475.2:n.2639+12C>G (EVC) | ||
| XR_427476.2:n.2639+12C>G (EVC) | ||
| XR_924920.1:n.2639+12C>G (EVC) | ||
| XR_924921.1:n.2639+12C>G (EVC) | ||
| XR_924922.1:n.2639+12C>G (EVC) | ||
| XR_924923.1:n.2639+12C>G (EVC) | ||
| XR_924924.1:n.2639+12C>G (EVC) | ||
| XR_924925.1:n.2639+12C>G (EVC) | ||
| XR_924926.1:n.2639+12C>G (EVC) | ||
| XR_924927.1:n.2639+12C>G (EVC) | ||
| XM_006713865.3:c.2449+12C>G (EVC) | XP_006713928.1:n.2449+12C>G | |
| XM_006713866.3:c.2449+12C>G (EVC) | XP_006713929.1:n.2449+12C>G | |
| XR_001741164.1:n.2629+12C>G (EVC) | ||
| XR_001741165.1:n.2629+12C>G (EVC) | ||
| XR_001741166.1:n.2629+12C>G (EVC) | ||
| XR_001741167.1:n.2629+12C>G (EVC) | ||
| XR_001741168.1:n.2629+12C>G (EVC) | ||
| XR_001741169.2:n.2493+12C>G (EVC) | ||
| XR_001741170.1:n.2714+12C>G (EVC) | ||
| XR_001741171.1:n.1934+12C>G (EVC) | ||
| XR_427473.3:n.2629+12C>G (EVC) | ||
| XR_427475.3:n.2629+12C>G (EVC) | ||
| XR_427476.3:n.2629+12C>G (EVC) | ||
| XR_924920.2:n.2629+12C>G (EVC) | ||
| XR_924921.2:n.2629+12C>G (EVC) | ||
| XR_924922.2:n.2629+12C>G (EVC) | ||
| XR_924924.2:n.2629+12C>G (EVC) | ||
| XR_924925.2:n.2629+12C>G (EVC) | ||
| XR_924926.2:n.2629+12C>G (EVC) | ||
| NM_153717.3:c.2449+12C>G (EVC) MANE Select | NP_714928.1:n.2449+12C>G | |
| NM_001306090.2:c.2449+12C>G (EVC) | NP_001293019.1:n.2449+12C>G |