Linked Data
ClinVar Variation Id:
353290
ClinVar RCV Id:
RCV000293662
dbSNP Id:
rs10491434
gnomAD v2:
5-35877914-A-G
gnomAD v3:
5-35877812-A-G
gnomAD v4:
5-35877812-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35877812A>G , CM000667.2:g.35877812A>G | GRCh38 |
| NC_000005.9:g.35877914A>G , CM000667.1:g.35877914A>G | GRCh37 |
| NC_000005.8:g.35913671A>G | NCBI36 |
| NG_009567.1:g.25924A>G , LRG_74:g.25924A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303115.8:c.*1326A>G MANE Select | ENSP00000306157.3:n.*1326A>G | |
| ENST00000303115.7:c.*1326A>G | ENSP00000306157.3:n.*1326A>G | |
| NM_002185.3:c.*1326A>G | NP_002176.2:n.*1326A>G | |
| NR_120485.1:n.2546A>G | ||
| NM_002185.4:c.*1326A>G | NP_002176.2:n.*1326A>G | |
| NR_120485.2:n.2572A>G | ||
| XM_005248299.4:c.*1823A>G | XP_005248356.1:n.*1823A>G | |
| NM_002185.5:c.*1326A>G MANE Select | NP_002176.2:n.*1326A>G | |
| NR_120485.3:n.2530A>G |