Linked Data
ClinVar Variation Id:
226130
dbSNP Id:
rs879255558
gnomAD v4:
7-23165876-G-A
PubMed:
PMID:27392078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23165876G>A , CM000669.2:g.23165876G>A | GRCh38 |
| NC_000007.13:g.23205495G>A , CM000669.1:g.23205495G>A | GRCh37 |
| NC_000007.12:g.23172020G>A | NCBI36 |
| NG_016983.1:g.65143G>A | |
| NG_016983.2:g.65143G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339077.10:c.1115G>A MANE Select | ENSP00000343273.4:p.Arg372Gln | |
| ENST00000339077.9:c.1115G>A | ENSP00000343273.4:p.Arg372Gln | |
| ENST00000409689.5:c.971G>A | ENSP00000386263.1:p.Arg324Gln | |
| ENST00000469576.1:n.2G>A | ||
| ENST00000521082.5:c.*1123G>A | ENSP00000430351.1:n.*1123G>A | |
| NM_001031710.2:c.1115G>A | NP_001026880.2:p.Arg372Gln | |
| NM_018846.4:c.971G>A | NP_061334.4:p.Arg324Gln | |
| NR_033328.1:n.1539G>A | ||
| XM_006715753.1:c.1154G>A | XP_006715816.1:p.Arg385Gln | |
| XM_006715754.1:c.1088G>A | XP_006715817.1:p.Arg363Gln | |
| XM_006715755.1:c.1088G>A | XP_006715818.1:p.Arg363Gln | |
| XM_006715756.1:c.1010G>A | XP_006715819.1:p.Arg337Gln | |
| XM_006715753.3:c.1154G>A | XP_006715816.1:p.Arg385Gln | |
| XM_006715754.3:c.1088G>A | XP_006715817.1:p.Arg363Gln | |
| XM_006715755.3:c.1088G>A | XP_006715818.1:p.Arg363Gln | |
| XM_006715756.3:c.1010G>A | XP_006715819.1:p.Arg337Gln | |
| XM_017012439.2:c.1049G>A | XP_016867928.1:p.Arg350Gln | |
| NM_001031710.3:c.1115G>A MANE Select | NP_001026880.2:p.Arg372Gln | |
| NM_018846.5:c.971G>A | NP_061334.4:p.Arg324Gln | |
| NR_033328.2:n.1488G>A |