Linked Data
ClinVar Variation Id:
191188
ClinVar RCV Id:
RCV000171374
dbSNP Id:
rs786205568
gnomAD v4:
4-15596208-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15596208G>A , CM000666.2:g.15596208G>A | GRCh38 |
| NC_000004.11:g.15597831G>A , CM000666.1:g.15597831G>A | GRCh37 |
| NC_000004.10:g.15206929G>A | NCBI36 |
| NG_013035.1:g.131343G>A , LRG_697:g.131343G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389652.11:c.4473+1G>A | ENSP00000374303.8:n.4473+1G>A | |
| ENST00000424120.6:c.4437+1G>A MANE Select | ENSP00000403465.1:n.4437+1G>A | |
| ENST00000503292.6:c.4437+1G>A | ENSP00000421809.1:n.4437+1G>A | |
| ENST00000506643.5:c.4290+1G>A | ENSP00000422931.2:n.4290+1G>A | |
| ENST00000513035.2:n.336+1G>A | ||
| ENST00000514039.6:c.544-1199G>A | ENSP00000488534.2:n.544-1199G>A | |
| ENST00000634028.2:c.4231+1G>A | ENSP00000488669.2:n.4231+1G>A | |
| ENST00000650860.2:c.*1934+1G>A | ENSP00000498775.1:n.*1934+1G>A | |
| ENST00000674945.1:c.4113+1G>A | ENSP00000502333.1:n.4113+1G>A | |
| ENST00000680586.1:n.5096+1G>A | ||
| ENST00000389652.9:c.3935+1G>A | ||
| ENST00000424120.5:c.4437+1G>A | ENSP00000403465.1:n.4437+1G>A | |
| ENST00000503292.5:c.4437+1G>A | ENSP00000421809.1:n.4437+1G>A | |
| ENST00000506643.4:c.2706+1G>A | ||
| ENST00000513035.1:n.336+1G>A | ||
| ENST00000514039.5:c.54-1199G>A | ||
| ENST00000634028.1:c.4243+1G>A | ENSP00000488669.1:n.4243+1G>A | |
| NM_001080522.2:c.4437+1G>A , LRG_697t1:c.4437+1G>A | NP_001073991.2:n.4437+1G>A | |
| XM_005248177.1:c.4437+1G>A | XP_005248234.1:n.4437+1G>A | |
| XM_011513869.1:c.4455+1G>A | XP_011512171.1:n.4455+1G>A | |
| XM_011513870.1:c.4455+1G>A | XP_011512172.1:n.4455+1G>A | |
| XM_011513871.1:c.4308+1G>A | XP_011512173.1:n.4308+1G>A | |
| XM_017008482.1:c.4290+1G>A | XP_016863971.1:n.4290+1G>A | |
| NM_001378615.1:c.4437+1G>A MANE Select | NP_001365544.1:n.4437+1G>A | |
| NM_001378617.1:c.4290+1G>A | NP_001365546.1:n.4290+1G>A |