Linked Data
ClinVar Variation Id:
2017825
ClinVar RCV Id:
RCV002835324
dbSNP Id:
rs757884115
ExAC:
7:23205376 G / C
gnomAD v4:
7-23165757-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23165757G>C , CM000669.2:g.23165757G>C | GRCh38 |
| NC_000007.13:g.23205376G>C , CM000669.1:g.23205376G>C | GRCh37 |
| NC_000007.12:g.23171901G>C | NCBI36 |
| NG_016983.1:g.65024G>C | |
| NG_016983.2:g.65024G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.996G>C MANE Select | ENSP00000343273.4:p.Val332= | |
| ENST00000339077.9:c.996G>C | ENSP00000343273.4:p.Val332= | |
| ENST00000409689.5:c.852G>C | ENSP00000386263.1:p.Val284= | |
| ENST00000521082.5:c.*1004G>C | ENSP00000430351.1:n.*1004G>C | |
| NM_001031710.2:c.996G>C | NP_001026880.2:p.Val332= | |
| NM_018846.4:c.852G>C | NP_061334.4:p.Val284= | |
| NR_033328.1:n.1420G>C | ||
| XM_006715753.1:c.1035G>C | XP_006715816.1:p.Val345= | |
| XM_006715754.1:c.969G>C | XP_006715817.1:p.Val323= | |
| XM_006715755.1:c.969G>C | XP_006715818.1:p.Val323= | |
| XM_006715756.1:c.891G>C | XP_006715819.1:p.Val297= | |
| XM_006715753.3:c.1035G>C | XP_006715816.1:p.Val345= | |
| XM_006715754.3:c.969G>C | XP_006715817.1:p.Val323= | |
| XM_006715755.3:c.969G>C | XP_006715818.1:p.Val323= | |
| XM_006715756.3:c.891G>C | XP_006715819.1:p.Val297= | |
| XM_017012439.2:c.930G>C | XP_016867928.1:p.Val310= | |
| NM_001031710.3:c.996G>C MANE Select | NP_001026880.2:p.Val332= | |
| NM_018846.5:c.852G>C | NP_061334.4:p.Val284= | |
| NR_033328.2:n.1369G>C |