Linked Data
ClinVar Variation Id:
2228554
ClinVar RCV Id:
RCV002707760
dbSNP Id:
rs768219025
ExAC:
16:89211807 C / G
gnomAD v2:
16-89211807-C-G
gnomAD v4:
16-89145399-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89145399C>G , CM000678.2:g.89145399C>G | GRCh38 |
| NC_000016.9:g.89211807C>G , CM000678.1:g.89211807C>G | GRCh37 |
| NC_000016.8:g.87739308C>G | NCBI36 |
| NG_031961.1:g.56591C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1499C>G | ENSP00000320646.4:p.Thr500Arg | |
| ENST00000614302.5:c.1499C>G MANE Select | ENSP00000479130.1:p.Thr500Arg | |
| ENST00000649953.1:c.1709C>G | ENSP00000497456.1:p.Thr570Arg | |
| ENST00000317447.8:c.1499C>G | ENSP00000320646.4:p.Thr500Arg | |
| ENST00000378345.8:c.704C>G | ENSP00000367596.4:p.Thr235Arg | |
| ENST00000406948.7:c.1499C>G | ENSP00000384627.3:p.Thr500Arg | |
| ENST00000537116.5:n.625C>G | ||
| ENST00000537155.1:n.239C>G | ||
| ENST00000542688.5:c.*243C>G | ENSP00000446281.1:n.*243C>G | |
| ENST00000544543.5:c.704C>G | ENSP00000442781.1:p.Thr235Arg | |
| ENST00000562204.1:n.472C>G | ||
| ENST00000614302.4:c.1499C>G | ENSP00000479130.1:p.Thr500Arg | |
| NM_001127214.3:c.1499C>G | NP_001120686.1:p.Thr500Arg | |
| NM_001243279.2:c.1499C>G | NP_001230208.1:p.Thr500Arg | |
| NM_001284316.1:c.704C>G | NP_001271245.1:p.Thr235Arg | |
| NM_174917.4:c.1499C>G | NP_777577.2:p.Thr500Arg | |
| NR_045667.2:n.625C>G | ||
| NR_104293.1:n.1933C>G | ||
| XM_005256293.1:c.1499C>G | XP_005256350.1:p.Thr500Arg | |
| XM_011522942.1:c.1499C>G | XP_011521244.1:p.Thr500Arg | |
| XM_011522943.1:c.1499C>G | XP_011521245.1:p.Thr500Arg | |
| XR_933239.1:n.1940C>G | ||
| XR_933240.1:n.1937C>G | ||
| XR_933241.1:n.1694C>G | ||
| NR_147928.1:n.1977C>G | ||
| NR_147929.1:n.1731C>G | ||
| XM_005256293.2:c.1499C>G | XP_005256350.1:p.Thr500Arg | |
| XM_017023018.1:c.1499C>G | XP_016878507.1:p.Thr500Arg | |
| XM_017023019.1:c.1499C>G | XP_016878508.1:p.Thr500Arg | |
| XM_017023020.2:c.-3606C>G | XP_016878509.1:n.-3606C>G | |
| XM_017023022.1:c.632C>G | XP_016878511.1:p.Thr211Arg | |
| XM_024450186.1:c.704C>G | XP_024305954.1:p.Thr235Arg | |
| XM_024450187.1:c.704C>G | XP_024305955.1:p.Thr235Arg | |
| XR_001751864.2:n.1746C>G | ||
| XR_001751865.1:n.1693C>G | ||
| XR_933240.3:n.1936C>G | ||
| NM_001127214.4:c.1499C>G | NP_001120686.1:p.Thr500Arg | |
| NM_001243279.3:c.1499C>G MANE Select | NP_001230208.1:p.Thr500Arg | |
| NM_001284316.2:c.704C>G | NP_001271245.1:p.Thr235Arg | |
| NM_174917.5:c.1499C>G | NP_777577.2:p.Thr500Arg | |
| NR_104293.2:n.1890C>G | ||
| NR_147928.2:n.1934C>G | ||
| NR_147929.2:n.1688C>G |