Linked Data
dbSNP Id:
rs1242120858
gnomAD v2:
2-175689234-T-C
gnomAD v3:
2-174824506-T-C
gnomAD v4:
2-174824506-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174824506T>C , CM000664.2:g.174824506T>C | GRCh38 |
| NC_000002.11:g.175689234T>C , CM000664.1:g.175689234T>C | GRCh37 |
| NC_000002.10:g.175397480T>C | NCBI36 |
| NG_012642.1:g.185937A>G | |
| NG_012642.2:g.185937A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295497.13:c.265A>G | ENSP00000295497.7:p.Arg89Gly | |
| ENST00000444394.7:c.265A>G | ENSP00000411911.2:p.Arg89Gly | |
| ENST00000295497.12:c.265A>G | ENSP00000295497.7:p.Arg89Gly | |
| ENST00000409089.7:c.-36A>G | ENSP00000386322.3:n.-36A>G | |
| ENST00000409900.9:c.640A>G MANE Select | ENSP00000386741.4:p.Arg214Gly | |
| ENST00000413882.6:c.94A>G | ENSP00000410496.2:p.Arg32Gly | |
| ENST00000425395.6:c.*87A>G | ENSP00000405270.2:n.*87A>G | |
| ENST00000443238.6:c.118A>G | ENSP00000409798.2:p.Arg40Gly | |
| ENST00000444394.6:c.265A>G | ENSP00000411911.2:p.Arg89Gly | |
| ENST00000444573.2:c.484A>G | ENSP00000392603.2:p.Arg162Gly | |
| ENST00000451799.2:c.484A>G | ENSP00000416316.2:p.Arg162Gly | |
| ENST00000469597.2:c.*288A>G | ENSP00000498417.1:n.*288A>G | |
| ENST00000488080.6:n.283A>G | ||
| ENST00000650731.1:c.-36A>G | ENSP00000499146.1:n.-36A>G | |
| ENST00000650734.1:c.*540A>G | ENSP00000498742.1:n.*540A>G | |
| ENST00000650770.1:c.*554A>G | ENSP00000499036.1:n.*554A>G | |
| ENST00000650938.1:c.164A>G | ||
| ENST00000651246.1:c.232A>G | ENSP00000498484.1:p.Arg78Gly | |
| ENST00000651315.1:c.232A>G | ENSP00000498692.1:p.Arg78Gly | |
| ENST00000651373.1:c.154A>G | ENSP00000499174.1:p.Arg52Gly | |
| ENST00000651501.1:c.*87A>G | ENSP00000498894.1:n.*87A>G | |
| ENST00000651580.1:c.*219A>G | ENSP00000498631.1:n.*219A>G | |
| ENST00000651599.1:c.*124A>G | ENSP00000498535.1:n.*124A>G | |
| ENST00000651717.1:c.253-12024A>G | ENSP00000499124.1:n.253-12024A>G | |
| ENST00000651803.1:c.*632A>G | ENSP00000499007.1:n.*632A>G | |
| ENST00000651971.1:c.*440A>G | ENSP00000499035.1:n.*440A>G | |
| ENST00000652036.1:c.265A>G | ENSP00000499139.1:p.Arg89Gly | |
| ENST00000652154.1:n.538A>G | ||
| ENST00000652208.1:c.484A>G | ENSP00000498475.1:p.Arg162Gly | |
| ENST00000652434.1:c.601A>G | ENSP00000498549.1:p.Arg201Gly | |
| ENST00000652437.1:n.783A>G | ||
| ENST00000652674.1:c.*124A>G | ENSP00000498599.1:n.*124A>G | |
| ENST00000652734.1:n.537A>G | ||
| ENST00000652756.1:c.484A>G | ENSP00000498281.1:p.Arg162Gly | |
| ENST00000652768.1:n.532A>G | ||
| ENST00000295497.11:c.265A>G | ENSP00000295497.7:p.Arg89Gly | |
| ENST00000409089.6:c.-36A>G | ENSP00000386322.2:n.-36A>G | |
| ENST00000409156.7:c.562A>G | ENSP00000386470.3:p.Arg188Gly | |
| ENST00000409597.5:c.88A>G | ENSP00000386469.1:p.Arg30Gly | |
| ENST00000409900.7:c.640A>G | ENSP00000386741.3:p.Arg214Gly | |
| ENST00000413882.5:c.94A>G | ENSP00000410496.1:p.Arg32Gly | |
| ENST00000425395.5:c.*191A>G | ENSP00000405270.1:n.*191A>G | |
| ENST00000443238.5:c.118A>G | ENSP00000409798.1:p.Arg40Gly | |
| ENST00000444394.5:c.-36A>G | ENSP00000411911.1:n.-36A>G | |
| ENST00000444573.1:c.265A>G | ENSP00000392603.1:p.Arg89Gly | |
| ENST00000485882.1:n.99A>G | ||
| ENST00000488080.5:n.491A>G | ||
| NM_001025201.3:c.562A>G | NP_001020372.2:p.Arg188Gly | |
| NM_001206602.1:c.265A>G | NP_001193531.1:p.Arg89Gly | |
| NM_001822.5:c.640A>G | NP_001813.1:p.Arg214Gly | |
| NR_038133.1:n.506A>G | ||
| NM_001025201.4:c.562A>G | NP_001020372.2:p.Arg188Gly | |
| NM_001206602.2:c.265A>G | NP_001193531.1:p.Arg89Gly | |
| NM_001371513.1:c.640A>G | NP_001358442.1:p.Arg214Gly | |
| NM_001371514.1:c.691A>G | NP_001358443.1:p.Arg231Gly | |
| NM_001822.7:c.640A>G MANE Select | NP_001813.1:p.Arg214Gly | |
| NR_038133.2:n.508A>G |