Linked Data
ClinVar Variation Id:
751931
ClinVar RCV Id:
RCV000929040
dbSNP Id:
rs1329049814
gnomAD v2:
17-78078938-A-C
gnomAD v3:
17-80105139-A-C
gnomAD v4:
17-80105139-A-C
MyVariant Identifiers:
chr17:g.78078938A>C (hg19)
chr17:g.78078938_78078944delinsCGGGCAG (hg19)
chr17:g.80105139A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80105139A>C , CM000679.2:g.80105139A>C | GRCh38 |
| NC_000017.10:g.78078938A>C , CM000679.1:g.78078938A>C | GRCh37 |
| NC_000017.9:g.75693533A>C | NCBI36 |
| NG_009822.1:g.8584A>C , LRG_673:g.8584A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.546+7A>C | ENSP00000460543.2:n.546+7A>C | |
| ENST00000572080.2:c.546+7A>C | ENSP00000459972.2:n.546+7A>C | |
| ENST00000577106.6:c.546+7A>C | ENSP00000458306.2:n.546+7A>C | |
| ENST00000302262.8:c.546+7A>C MANE Select | ENSP00000305692.3:n.546+7A>C | |
| ENST00000302262.7:c.546+7A>C | ENSP00000305692.3:n.546+7A>C | |
| ENST00000390015.7:c.546+7A>C | ENSP00000374665.3:n.546+7A>C | |
| ENST00000570803.5:c.546+7A>C | ENSP00000460543.1:n.546+7A>C | |
| ENST00000577106.5:c.546+7A>C | ENSP00000458306.1:n.546+7A>C | |
| NM_000152.3:c.546+7A>C , LRG_673t1:c.546+7A>C | NP_000143.2:n.546+7A>C | |
| NM_001079803.1:c.546+7A>C | NP_001073271.1:n.546+7A>C | |
| NM_001079804.1:c.546+7A>C | NP_001073272.1:n.546+7A>C | |
| XM_005257193.1:c.546+7A>C | XP_005257250.1:n.546+7A>C | |
| XM_005257194.3:c.546+7A>C | XP_005257251.1:n.546+7A>C | |
| NM_000152.4:c.546+7A>C | NP_000143.2:n.546+7A>C | |
| NM_001079803.2:c.546+7A>C | NP_001073271.1:n.546+7A>C | |
| NM_001079804.2:c.546+7A>C | NP_001073272.1:n.546+7A>C | |
| XM_005257193.2:c.546+7A>C | XP_005257250.1:n.546+7A>C | |
| XM_005257194.4:c.546+7A>C | XP_005257251.1:n.546+7A>C | |
| NM_000152.5:c.546+7A>C MANE Select | NP_000143.2:n.546+7A>C | |
| NM_001079803.3:c.546+7A>C | NP_001073271.1:n.546+7A>C | |
| NM_001079804.3:c.546+7A>C | NP_001073272.1:n.546+7A>C |