Linked Data
ClinVar Variation Id:
191157
dbSNP Id:
rs786205551
gnomAD v2:
2-238402173-G-A
gnomAD v3:
2-237493530-G-A
gnomAD v4:
2-237493530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237493530G>A , CM000664.2:g.237493530G>A | GRCh38 |
| NC_000002.11:g.238402173G>A , CM000664.1:g.238402173G>A | GRCh37 |
| NC_000002.10:g.238066912G>A | NCBI36 |
| NG_007286.1:g.11244G>A , LRG_83:g.11244G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264605.8:c.104G>A MANE Select | ENSP00000264605.3:p.Arg35Gln | |
| ENST00000264605.7:c.104G>A | ENSP00000264605.3:p.Arg35Gln | |
| ENST00000338530.8:c.104G>A | ENSP00000341845.4:p.Arg35Gln | |
| ENST00000409373.5:c.104G>A | ENSP00000386780.1:p.Arg35Gln | |
| ENST00000410032.5:c.104G>A | ENSP00000386338.1:p.Arg35Gln | |
| ENST00000422695.5:c.104G>A | ENSP00000409170.1:p.Arg35Gln | |
| ENST00000429898.5:c.104G>A | ENSP00000403909.1:p.Arg35Gln | |
| ENST00000468178.5:n.315G>A | ||
| ENST00000469619.5:n.291G>A | ||
| ENST00000477222.5:n.315G>A | ||
| NM_001042467.2:c.104G>A | NP_001035932.1:p.Arg35Gln | |
| NM_001281473.1:c.104G>A | NP_001268402.1:p.Arg35Gln | |
| NM_001281474.1:c.104G>A | NP_001268403.1:p.Arg35Gln | |
| NM_024101.6:c.104G>A | NP_077006.1:p.Arg35Gln | |
| NR_104019.1:n.347G>A | ||
| XM_006712737.1:c.104G>A | XP_006712800.1:p.Arg35Gln | |
| XM_006712739.1:c.104G>A | XP_006712802.1:p.Arg35Gln | |
| XM_006712740.1:c.104G>A | XP_006712803.1:p.Arg35Gln | |
| XM_011511811.1:c.104G>A | XP_011510113.1:p.Arg35Gln | |
| XR_923025.1:n.315G>A | ||
| XM_017004893.1:c.104G>A | XP_016860382.1:p.Arg35Gln | |
| XM_017004894.2:c.104G>A | XP_016860383.1:p.Arg35Gln | |
| NM_024101.7:c.104G>A MANE Select | NP_077006.1:p.Arg35Gln | |
| NM_001042467.3:c.104G>A | NP_001035932.1:p.Arg35Gln | |
| NM_001281473.2:c.104G>A | NP_001268402.1:p.Arg35Gln | |
| NM_001281474.2:c.104G>A | NP_001268403.1:p.Arg35Gln | |
| NR_104019.2:n.315G>A |