Linked Data
ClinVar Variation Id:
1219071
ClinVar RCV Id:
RCV001594267
dbSNP Id:
rs184496110
gnomAD v2:
4-6302228-G-A
gnomAD v3:
4-6300501-G-A
gnomAD v4:
4-6300501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300501G>A , CM000666.2:g.6300501G>A | GRCh38 |
| NC_000004.11:g.6302228G>A , CM000666.1:g.6302228G>A | GRCh37 |
| NC_000004.10:g.6353129G>A | NCBI36 |
| NG_011700.1:g.35652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.898-156G>A | ENSP00000507852.1:n.898-156G>A | |
| ENST00000683395.1:c.839-156G>A | ||
| ENST00000684087.1:c.862-156G>A | ENSP00000506978.1:n.862-156G>A | |
| ENST00000506362.2:c.613-156G>A | ENSP00000424103.2:n.613-156G>A | |
| ENST00000673642.1:c.661-296G>A | ENSP00000501242.1:n.661-296G>A | |
| ENST00000673991.1:c.898-156G>A | ENSP00000501033.1:n.898-156G>A | |
| ENST00000226760.5:c.862-156G>A MANE Select | ENSP00000226760.1:n.862-156G>A | |
| ENST00000503569.5:c.862-156G>A | ENSP00000423337.1:n.862-156G>A | |
| ENST00000506362.1:c.495-156G>A | ||
| ENST00000507765.1:n.1047-156G>A | ||
| ENST00000513395.1:n.420-156G>A | ||
| NM_001145853.1:c.862-156G>A | NP_001139325.1:n.862-156G>A | |
| NM_006005.3:c.862-156G>A MANE Select | NP_005996.2:n.862-156G>A | |
| XM_017008586.1:c.871-156G>A | XP_016864075.1:n.871-156G>A |