Linked Data
ClinVar Variation Id:
705536
ClinVar RCV Id:
RCV000875850
dbSNP Id:
rs183735415
ExAC:
9:131708071 A / G
gnomAD v2:
9-131708071-A-G
gnomAD v3:
9-128945792-A-G
gnomAD v4:
9-128945792-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945792A>G , CM000671.2:g.128945792A>G | GRCh38 |
| NC_000009.11:g.131708071A>G , CM000671.1:g.131708071A>G | GRCh37 |
| NC_000009.10:g.130747892A>G | NCBI36 |
| NG_017009.1:g.6942T>C , LRG_744:g.6942T>C | |
| NG_033111.1:g.3100A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1512T>C MANE Select | ENSP00000361667.3:p.Ala504= | |
| ENST00000372586.3:c.1512T>C | ENSP00000361667.3:p.Ala504= | |
| ENST00000482796.1:c.39-3397A>G | ENSP00000417556.2:n.39-3397A>G | |
| NM_014908.3:c.1512T>C , LRG_744t1:c.1512T>C | NP_055723.1:p.Ala504= | |
| NM_014908.4:c.1512T>C MANE Select | NP_055723.1:p.Ala504= |