Linked Data
ClinVar Variation Id:
1618706
ClinVar RCV Id:
RCV002082149
dbSNP Id:
rs1480730816
gnomAD v2:
9-35059047-G-T
gnomAD v3:
9-35059050-G-T
gnomAD v4:
9-35059050-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35059050G>T , CM000671.2:g.35059050G>T | GRCh38 |
| NC_000009.11:g.35059047G>T , CM000671.1:g.35059047G>T | GRCh37 |
| NC_000009.10:g.35049047G>T | NCBI36 |
| NG_007887.1:g.18693C>A , LRG_657:g.18693C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.2160+14C>A MANE Select | ENSP00000351777.6:n.2160+14C>A | |
| ENST00000417448.2:c.2025+14C>A | ENSP00000399456.2:n.2025+14C>A | |
| ENST00000448530.6:c.2025+14C>A | ENSP00000392088.2:n.2025+14C>A | |
| ENST00000479300.2:n.688+14C>A | ||
| ENST00000676836.2:n.2903+14C>A | ||
| ENST00000677257.1:c.2154+14C>A | ENSP00000504354.1:n.2154+14C>A | |
| ENST00000678018.1:c.*2131+14C>A | ENSP00000503811.1:n.*2131+14C>A | |
| ENST00000678465.1:c.*1172+14C>A | ENSP00000504259.1:n.*1172+14C>A | |
| ENST00000678650.1:c.2025+14C>A | ENSP00000503426.1:n.2025+14C>A | |
| ENST00000679204.2:c.*801+14C>A | ENSP00000503131.2:n.*801+14C>A | |
| ENST00000679599.1:n.3230C>A | ||
| ENST00000679647.1:c.2083+91C>A | ENSP00000506216.1:n.2083+91C>A | |
| ENST00000679800.1:n.2559+14C>A | ||
| ENST00000679862.1:c.2025+14C>A | ENSP00000504990.1:n.2025+14C>A | |
| ENST00000679902.1:c.2160+14C>A | ENSP00000506338.1:n.2160+14C>A | |
| ENST00000680916.1:c.*125+14C>A | ENSP00000505769.1:n.*125+14C>A | |
| ENST00000681335.1:c.2004+443C>A | ENSP00000505230.1:n.2004+443C>A | |
| ENST00000681690.1:n.2446C>A | ||
| ENST00000358901.10:c.2160+14C>A | ENSP00000351777.6:n.2160+14C>A | |
| ENST00000493886.5:n.2434+14C>A | ||
| NM_007126.3:c.2160+14C>A , LRG_657t1:c.2160+14C>A | NP_009057.1:n.2160+14C>A | |
| NM_001354927.1:c.2025+14C>A | NP_001341856.1:n.2025+14C>A | |
| NM_001354928.1:c.2025+14C>A | NP_001341857.1:n.2025+14C>A | |
| NM_007126.4:c.2160+14C>A | NP_009057.1:n.2160+14C>A | |
| NM_007126.5:c.2160+14C>A MANE Select | NP_009057.1:n.2160+14C>A | |
| NM_001354927.2:c.2025+14C>A | NP_001341856.1:n.2025+14C>A | |
| NM_001354928.2:c.2025+14C>A | NP_001341857.1:n.2025+14C>A |