Linked Data
ClinVar Variation Id:
349065
dbSNP Id:
rs370138167
ExAC:
4:56278021 C / A
gnomAD v2:
4-56278021-C-A
gnomAD v3:
4-55411854-C-A
gnomAD v4:
4-55411854-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55411854C>A , CM000666.2:g.55411854C>A | GRCh38 |
| NC_000004.11:g.56278021C>A , CM000666.1:g.56278021C>A | GRCh37 |
| NC_000004.10:g.55972778C>A | NCBI36 |
| NG_032881.1:g.20942C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381334.10:c.433+15C>A MANE Select | ENSP00000370736.5:n.433+15C>A | |
| ENST00000381334.9:c.433+15C>A | ENSP00000370736.5:n.433+15C>A | |
| ENST00000502797.1:n.337C>A | ||
| ENST00000506198.5:c.208-12684C>A | ENSP00000425449.1:n.208-12684C>A | |
| ENST00000508404.5:c.*305+15C>A | ENSP00000422639.1:n.*305+15C>A | |
| ENST00000511710.1:n.557+15C>A | ||
| NM_018475.4:c.433+15C>A | NP_060945.2:n.433+15C>A | |
| NR_073070.1:n.813+15C>A | ||
| XM_011534394.1:c.433+15C>A | XP_011532696.1:n.433+15C>A | |
| XM_011534394.3:c.433+15C>A | XP_011532696.1:n.433+15C>A | |
| XM_017008412.1:c.244+15C>A | XP_016863901.1:n.244+15C>A | |
| XR_001741287.2:n.970+15C>A | ||
| NM_018475.5:c.433+15C>A MANE Select | NP_060945.2:n.433+15C>A | |
| NR_073070.2:n.769+15C>A |