Linked Data
ClinVar Variation Id:
2925420
ClinVar RCV Id:
RCV003781074
dbSNP Id:
rs200621976
gnomAD v2:
7-143021514-A-G
gnomAD v3:
7-143324421-A-G
gnomAD v4:
7-143324421-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143324421A>G , CM000669.2:g.143324421A>G | GRCh38 |
| NC_000007.13:g.143021514A>G , CM000669.1:g.143021514A>G | GRCh37 |
| NC_000007.12:g.142731636A>G | NCBI36 |
| NG_009815.1:g.13296A>G | |
| NG_009815.2:g.13296A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.853+524A>G | ENSP00000498052.2:n.853+524A>G | |
| ENST00000343257.7:c.782A>G MANE Select | ENSP00000339867.2:p.Tyr261Cys | |
| ENST00000432192.6:c.606A>G | ||
| ENST00000455478.6:c.370A>G | ENSP00000400027.2:n.370A>G | |
| ENST00000650516.1:c.853+524A>G | ENSP00000498052.1:n.853+524A>G | |
| ENST00000343257.6:c.782A>G | ENSP00000339867.2:p.Tyr261Cys | |
| ENST00000432192.5:c.296A>G | ||
| ENST00000455478.5:c.374A>G | ||
| ENST00000495612.1:n.154+2573A>G | ||
| NM_000083.2:c.782A>G | NP_000074.2:p.Tyr261Cys | |
| NR_046453.1:n.872A>G | ||
| XM_011515781.1:c.853+524A>G | XP_011514083.1:n.853+524A>G | |
| XM_017011739.1:c.403+2573A>G | XP_016867228.1:n.403+2573A>G | |
| XM_017011740.1:c.403+2573A>G | XP_016867229.1:n.403+2573A>G | |
| NM_000083.3:c.782A>G MANE Select | NP_000074.3:p.Tyr261Cys | |
| NR_046453.2:n.887A>G |