Linked Data
ClinVar Variation Id:
2934027
ClinVar RCV Id:
RCV003795777
dbSNP Id:
rs759060826
gnomAD v4:
7-143351620-C-G
MyVariant Identifiers:
chr7:g.143048713C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351620C>G , CM000669.2:g.143351620C>G | GRCh38 |
| NC_000007.13:g.143048713C>G , CM000669.1:g.143048713C>G | GRCh37 |
| NC_000007.12:g.142758835C>G | NCBI36 |
| NG_009815.1:g.40495C>G | |
| NG_009815.2:g.40495C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2622C>G | ENSP00000498052.2:p.Thr874= | |
| ENST00000343257.7:c.2622C>G MANE Select | ENSP00000339867.2:p.Thr874= | |
| ENST00000432192.6:c.2446C>G | ||
| ENST00000343257.6:c.2622C>G | ENSP00000339867.2:p.Thr874= | |
| NM_000083.2:c.2622C>G | NP_000074.2:p.Thr874= | |
| NR_046453.1:n.2562C>G | ||
| XM_011515781.1:c.2646C>G | XP_011514083.1:p.Thr882= | |
| XM_011515782.1:c.1368C>G | XP_011514084.1:p.Thr456= | |
| XM_011515782.2:c.1368C>G | XP_011514084.1:p.Thr456= | |
| XM_017011739.1:c.2196C>G | XP_016867228.1:p.Thr732= | |
| XM_017011740.1:c.2172C>G | XP_016867229.1:p.Thr724= | |
| NM_000083.3:c.2622C>G MANE Select | NP_000074.3:p.Thr874= | |
| NR_046453.2:n.2577C>G |