Linked Data
ClinVar Variation Id:
426045
ClinVar RCV Id:
RCV000488489
dbSNP Id:
rs1085307434
gnomAD v4:
9-127816075-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127816075A>G , CM000671.2:g.127816075A>G | GRCh38 |
| NC_000009.11:g.130578354A>G , CM000671.1:g.130578354A>G | GRCh37 |
| NC_000009.10:g.129618175A>G | NCBI36 |
| NG_009551.1:g.43694T>C , LRG_589:g.43694T>C | |
| NG_023245.1:g.18201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.1196-22T>C | ENSP00000479015.1:n.1196-22T>C | |
| ENST00000373203.9:c.1742-22T>C MANE Select | ENSP00000362299.4:n.1742-22T>C | |
| ENST00000344849.4:c.1742-22T>C | ENSP00000341917.3:n.1742-22T>C | |
| ENST00000373203.8:c.1742-22T>C | ENSP00000362299.4:n.1742-22T>C | |
| ENST00000480266.5:c.1196-22T>C | ENSP00000479015.1:n.1196-22T>C | |
| NM_000118.3:c.1742-22T>C , LRG_589t1:c.1742-22T>C | NP_000109.1:n.1742-22T>C | |
| NM_001114753.2:c.1742-22T>C , LRG_589t2:c.1742-22T>C | NP_001108225.1:n.1742-22T>C | |
| NM_001278138.1:c.1196-22T>C | NP_001265067.1:n.1196-22T>C | |
| XM_011519273.1:c.-504A>G | XP_011517575.1:n.-504A>G | |
| NR_136302.1:n.10A>G | ||
| NM_001114753.3:c.1742-22T>C MANE Select | NP_001108225.1:n.1742-22T>C | |
| NM_001278138.2:c.1196-22T>C | NP_001265067.1:n.1196-22T>C |