Linked Data
ClinVar Variation Id:
2971063
ClinVar RCV Id:
RCV003827245
dbSNP Id:
rs751749181
ExAC:
4:56291534 C / G
gnomAD v2:
4-56291534-C-G
gnomAD v3:
4-55425367-C-G
gnomAD v4:
4-55425367-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55425367C>G , CM000666.2:g.55425367C>G | GRCh38 |
| NC_000004.11:g.56291534C>G , CM000666.1:g.56291534C>G | GRCh37 |
| NC_000004.10:g.55986291C>G | NCBI36 |
| NG_032881.1:g.34455C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381334.10:c.899-9C>G MANE Select | ENSP00000370736.5:n.899-9C>G | |
| ENST00000381334.9:c.899-9C>G | ENSP00000370736.5:n.899-9C>G | |
| ENST00000506103.2:c.352+724C>G | ||
| ENST00000506198.5:c.314-9C>G | ENSP00000425449.1:n.314-9C>G | |
| ENST00000508404.5:c.*771-9C>G | ENSP00000422639.1:n.*771-9C>G | |
| ENST00000508561.5:n.595-9C>G | ||
| ENST00000514904.5:n.1353-9C>G | ||
| ENST00000515591.1:n.1531-9C>G | ||
| ENST00000608091.1:c.408+724C>G | ||
| NM_018475.4:c.899-9C>G | NP_060945.2:n.899-9C>G | |
| NR_073070.1:n.1279-9C>G | ||
| XM_011534394.1:c.898+724C>G | XP_011532696.1:n.898+724C>G | |
| XM_011534394.3:c.898+724C>G | XP_011532696.1:n.898+724C>G | |
| XM_017008412.1:c.710-9C>G | XP_016863901.1:n.710-9C>G | |
| XR_001741287.2:n.1615-9C>G | ||
| NM_018475.5:c.899-9C>G MANE Select | NP_060945.2:n.899-9C>G | |
| NR_073070.2:n.1235-9C>G |