Linked Data
ClinVar Variation Id:
1225803
ClinVar RCV Id:
RCV001613478
dbSNP Id:
rs2304865
gnomAD v2:
4-187525363-C-G
gnomAD v3:
4-186604209-C-G
gnomAD v4:
4-186604209-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186604209C>G , CM000666.2:g.186604209C>G | GRCh38 |
| NC_000004.11:g.187525363C>G , CM000666.1:g.187525363C>G | GRCh37 |
| NC_000004.10:g.187762357C>G | NCBI36 |
| NG_046994.1:g.127707G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441802.7:c.10548+168G>C MANE Select | ENSP00000406229.2:n.10548+168G>C | |
| ENST00000441802.6:c.10548+168G>C | ENSP00000406229.2:n.10548+168G>C | |
| ENST00000614102.4:c.10554+168G>C | ENSP00000479573.1:n.10554+168G>C | |
| NM_005245.3:c.10548+168G>C | NP_005236.2:n.10548+168G>C | |
| XM_005262834.2:c.10548+168G>C | XP_005262891.1:n.10548+168G>C | |
| XM_005262835.1:c.10548+168G>C | XP_005262892.1:n.10548+168G>C | |
| XM_006714139.2:c.10548+168G>C | XP_006714202.1:n.10548+168G>C | |
| XM_005262834.3:c.10548+168G>C | XP_005262891.1:n.10548+168G>C | |
| XM_005262835.2:c.10548+168G>C | XP_005262892.1:n.10548+168G>C | |
| XM_006714139.3:c.10548+168G>C | XP_006714202.1:n.10548+168G>C | |
| NM_005245.4:c.10548+168G>C MANE Select | NP_005236.2:n.10548+168G>C |