Linked Data
ClinVar Variation Id:
1137795
ClinVar RCV Id:
RCV001473924
dbSNP Id:
rs762839410
gnomAD v3:
7-23165775-A-G
gnomAD v4:
7-23165775-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23165775A>G , CM000669.2:g.23165775A>G | GRCh38 |
| NC_000007.13:g.23205394A>G , CM000669.1:g.23205394A>G | GRCh37 |
| NC_000007.12:g.23171919A>G | NCBI36 |
| NG_016983.1:g.65042A>G | |
| NG_016983.2:g.65042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.1014A>G MANE Select | ENSP00000343273.4:p.Val338= | |
| ENST00000339077.9:c.1014A>G | ENSP00000343273.4:p.Val338= | |
| ENST00000409689.5:c.870A>G | ENSP00000386263.1:p.Val290= | |
| ENST00000521082.5:c.*1022A>G | ENSP00000430351.1:n.*1022A>G | |
| NM_001031710.2:c.1014A>G | NP_001026880.2:p.Val338= | |
| NM_018846.4:c.870A>G | NP_061334.4:p.Val290= | |
| NR_033328.1:n.1438A>G | ||
| XM_006715753.1:c.1053A>G | XP_006715816.1:p.Val351= | |
| XM_006715754.1:c.987A>G | XP_006715817.1:p.Val329= | |
| XM_006715755.1:c.987A>G | XP_006715818.1:p.Val329= | |
| XM_006715756.1:c.909A>G | XP_006715819.1:p.Val303= | |
| XM_006715753.3:c.1053A>G | XP_006715816.1:p.Val351= | |
| XM_006715754.3:c.987A>G | XP_006715817.1:p.Val329= | |
| XM_006715755.3:c.987A>G | XP_006715818.1:p.Val329= | |
| XM_006715756.3:c.909A>G | XP_006715819.1:p.Val303= | |
| XM_017012439.2:c.948A>G | XP_016867928.1:p.Val316= | |
| NM_001031710.3:c.1014A>G MANE Select | NP_001026880.2:p.Val338= | |
| NM_018846.5:c.870A>G | NP_061334.4:p.Val290= | |
| NR_033328.2:n.1387A>G |