Linked Data
ClinVar Variation Id:
1622217
ClinVar RCV Id:
RCV002106100
dbSNP Id:
rs1830711464
gnomAD v4:
9-127829675-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127829675G>C , CM000671.2:g.127829675G>C | GRCh38 |
| NC_000009.11:g.130591954G>C , CM000671.1:g.130591954G>C | GRCh37 |
| NC_000009.10:g.129631775G>C | NCBI36 |
| NG_009551.1:g.30094C>G , LRG_589:g.30094C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-187+12C>G | ENSP00000479015.1:n.-187+12C>G | |
| ENST00000373203.9:c.360+12C>G MANE Select | ENSP00000362299.4:n.360+12C>G | |
| ENST00000344849.4:c.360+12C>G | ENSP00000341917.3:n.360+12C>G | |
| ENST00000373203.8:c.360+12C>G | ENSP00000362299.4:n.360+12C>G | |
| ENST00000462196.1:n.118+12C>G | ||
| ENST00000480266.5:c.-187+12C>G | ENSP00000479015.1:n.-187+12C>G | |
| NM_000118.3:c.360+12C>G , LRG_589t1:c.360+12C>G | NP_000109.1:n.360+12C>G | |
| NM_001114753.2:c.360+12C>G , LRG_589t2:c.360+12C>G | NP_001108225.1:n.360+12C>G | |
| NM_001278138.1:c.-187+12C>G | NP_001265067.1:n.-187+12C>G | |
| XR_001746952.2:n.83-2723G>C | ||
| NM_001114753.3:c.360+12C>G MANE Select | NP_001108225.1:n.360+12C>G | |
| NM_001278138.2:c.-187+12C>G | NP_001265067.1:n.-187+12C>G |