Linked Data
ClinVar Variation Id:
1220192
ClinVar RCV Id:
RCV001590867
dbSNP Id:
rs142032130
gnomAD v2:
19-8665624-T-C
gnomAD v3:
19-8600740-T-C
gnomAD v4:
19-8600740-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8600740T>C , CM000681.2:g.8600740T>C | GRCh38 |
| NC_000019.9:g.8665624T>C , CM000681.1:g.8665624T>C | GRCh37 |
| NC_000019.8:g.8571624T>C | NCBI36 |
| NG_011840.2:g.14963A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.810+188A>G MANE Select | ENSP00000471851.1:n.810+188A>G | |
| ENST00000270328.8:c.810+188A>G | ENSP00000270328.4:n.810+188A>G | |
| ENST00000593913.5:c.810+188A>G | ENSP00000469901.1:n.810+188A>G | |
| ENST00000596466.2:n.759+188A>G | ||
| ENST00000596709.5:n.894+188A>G | ||
| ENST00000596851.5:c.810+188A>G | ENSP00000469559.1:n.810+188A>G | |
| ENST00000597188.5:c.810+188A>G | ENSP00000471851.1:n.810+188A>G | |
| NM_030957.3:c.810+188A>G | NP_112219.3:n.810+188A>G | |
| XM_006722917.2:c.-300+188A>G | XP_006722980.1:n.-300+188A>G | |
| XM_011528331.1:c.810+188A>G | XP_011526633.1:n.810+188A>G | |
| XM_011528332.1:c.810+188A>G | XP_011526634.1:n.810+188A>G | |
| XM_011528333.1:c.810+188A>G | XP_011526635.1:n.810+188A>G | |
| XM_011528334.1:c.810+188A>G | XP_011526636.1:n.810+188A>G | |
| XR_430156.2:n.1086+188A>G | ||
| XR_936208.1:n.1086+188A>G | ||
| XR_936209.1:n.1086+188A>G | ||
| XM_006722917.3:c.-300+188A>G | XP_006722980.1:n.-300+188A>G | |
| XM_017027338.2:c.810+188A>G | XP_016882827.1:n.810+188A>G | |
| XR_001753770.1:n.1646+188A>G | ||
| NM_030957.4:c.810+188A>G MANE Select | NP_112219.3:n.810+188A>G |