Linked Data
ClinVar Variation Id:
1541183
ClinVar RCV Id:
RCV002172391
dbSNP Id:
rs2089804883
gnomAD v3:
19-6681930-T-C
gnomAD v4:
19-6681930-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6681930T>C , CM000681.2:g.6681930T>C | GRCh38 |
| NC_000019.9:g.6681941T>C , CM000681.1:g.6681941T>C | GRCh37 |
| NC_000019.8:g.6632941T>C | NCBI36 |
| NG_009557.1:g.43722A>G , LRG_27:g.43722A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2698+11A>G | ||
| ENST00000695653.1:c.2259+11A>G | ENSP00000512084.1:n.2259+11A>G | |
| ENST00000695654.1:c.3375+11A>G | ENSP00000512085.1:n.3375+11A>G | |
| ENST00000695689.1:c.321+11A>G | ENSP00000512101.1:n.321+11A>G | |
| ENST00000695690.1:n.552A>G | ||
| ENST00000695691.1:n.552A>G | ||
| ENST00000245907.11:c.4350+11A>G MANE Select | ENSP00000245907.4:n.4350+11A>G | |
| ENST00000245907.10:c.4350+11A>G | ENSP00000245907.4:n.4350+11A>G | |
| ENST00000596548.1:c.471+11A>G | ENSP00000469744.1:n.471+11A>G | |
| ENST00000599899.5:n.1309+11A>G | ||
| ENST00000601008.1:c.242-3972A>G | ENSP00000471384.1:n.242-3972A>G | |
| NM_000064.3:c.4350+11A>G | NP_000055.2:n.4350+11A>G | |
| NM_000064.4:c.4350+11A>G MANE Select | NP_000055.2:n.4350+11A>G |