Linked Data
ClinVar Variation Id:
349766
dbSNP Id:
rs373820698
ExAC:
4:79400880 A / G
gnomAD v2:
4-79400880-A-G
gnomAD v3:
4-78479726-A-G
gnomAD v4:
4-78479726-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78479726A>G , CM000666.2:g.78479726A>G | GRCh38 |
| NC_000004.11:g.79400880A>G , CM000666.1:g.79400880A>G | GRCh37 |
| NC_000004.10:g.79619904A>G | NCBI36 |
| NG_015812.1:g.427157A>G | |
| NG_015812.2:g.427157A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.8443+8A>G | ENSP00000508201.1:n.8443+8A>G | |
| ENST00000512123.4:c.8443+8A>G MANE Select | ENSP00000422834.2:n.8443+8A>G | |
| ENST00000512123.3:c.8443+8A>G | ENSP00000422834.2:n.8443+8A>G | |
| NM_025074.6:c.8443+8A>G | NP_079350.5:n.8443+8A>G | |
| XM_006714314.1:c.8437+8A>G | XP_006714377.1:n.8437+8A>G | |
| XM_006714316.1:c.8215+8A>G | XP_006714379.1:n.8215+8A>G | |
| XM_011532270.1:c.6142+8A>G | XP_011530572.1:n.6142+8A>G | |
| XM_011532271.1:c.3331+8A>G | XP_011530573.1:n.3331+8A>G | |
| XM_006714316.3:c.8215+8A>G | XP_006714379.1:n.8215+8A>G | |
| NM_025074.7:c.8443+8A>G MANE Select | NP_079350.5:n.8443+8A>G |