Linked Data
ClinVar Variation Id:
1083643
ClinVar RCV Id:
RCV001400376
dbSNP Id:
rs200829550
ExAC:
2:169801107 T / C
gnomAD v2:
2-169801107-T-C
gnomAD v3:
2-168944597-T-C
gnomAD v4:
2-168944597-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168944597T>C , CM000664.2:g.168944597T>C | GRCh38 |
| NC_000002.11:g.169801107T>C , CM000664.1:g.169801107T>C | GRCh37 |
| NC_000002.10:g.169509353T>C | NCBI36 |
| NG_007374.1:g.91727A>G | |
| NG_007374.2:g.91800A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.927+8A>G | ENSP00000497165.1:n.927+8A>G | |
| ENST00000650372.1:c.2610+8A>G MANE Select | ENSP00000497931.1:n.2610+8A>G | |
| ENST00000263817.6:c.2610+8A>G | ENSP00000263817.6:n.2610+8A>G | |
| ENST00000439188.1:c.1299+8A>G | ENSP00000416058.1:n.1299+8A>G | |
| NM_003742.2:c.2610+8A>G | NP_003733.2:n.2610+8A>G | |
| XM_006712817.2:c.2652+8A>G | XP_006712880.1:n.2652+8A>G | |
| XM_011512077.1:c.2712+8A>G | XP_011510379.1:n.2712+8A>G | |
| XM_011512078.1:c.2712+8A>G | XP_011510380.1:n.2712+8A>G | |
| XM_011512079.1:c.2712+8A>G | XP_011510381.1:n.2712+8A>G | |
| XM_011512080.1:c.2712+8A>G | XP_011510382.1:n.2712+8A>G | |
| XM_011512081.1:c.936+8A>G | XP_011510383.1:n.936+8A>G | |
| NM_003742.4:c.2610+8A>G MANE Select | NP_003733.2:n.2610+8A>G | |
| XM_006712817.3:c.2652+8A>G | XP_006712880.1:n.2652+8A>G | |
| XM_011512077.2:c.2712+8A>G | XP_011510379.1:n.2712+8A>G | |
| XM_011512078.2:c.2712+8A>G | XP_011510380.1:n.2712+8A>G | |
| XM_011512080.2:c.2712+8A>G | XP_011510382.1:n.2712+8A>G | |
| XM_011512081.2:c.936+8A>G | XP_011510383.1:n.936+8A>G | |
| XM_017005165.1:c.2712+8A>G | XP_016860654.1:n.2712+8A>G | |
| XM_017005166.1:c.1941+8A>G | XP_016860655.1:n.1941+8A>G | |
| XM_017005167.1:c.1395+8A>G | XP_016860656.1:n.1395+8A>G |