Linked Data
dbSNP Id:
rs1165454929
gnomAD v2:
2-175689226-T-C
gnomAD v3:
2-174824498-T-C
gnomAD v4:
2-174824498-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174824498T>C , CM000664.2:g.174824498T>C | GRCh38 |
| NC_000002.11:g.175689226T>C , CM000664.1:g.175689226T>C | GRCh37 |
| NC_000002.10:g.175397472T>C | NCBI36 |
| NG_012642.1:g.185945A>G | |
| NG_012642.2:g.185945A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295497.13:c.273A>G | ENSP00000295497.7:p.Pro91= | |
| ENST00000444394.7:c.273A>G | ENSP00000411911.2:p.Pro91= | |
| ENST00000295497.12:c.273A>G | ENSP00000295497.7:p.Pro91= | |
| ENST00000409089.7:c.-28A>G | ENSP00000386322.3:n.-28A>G | |
| ENST00000409900.9:c.648A>G MANE Select | ENSP00000386741.4:p.Pro216= | |
| ENST00000413882.6:c.102A>G | ENSP00000410496.2:p.Pro34= | |
| ENST00000425395.6:c.*95A>G | ENSP00000405270.2:n.*95A>G | |
| ENST00000443238.6:c.126A>G | ENSP00000409798.2:p.Pro42= | |
| ENST00000444394.6:c.273A>G | ENSP00000411911.2:p.Pro91= | |
| ENST00000444573.2:c.492A>G | ENSP00000392603.2:p.Pro164= | |
| ENST00000451799.2:c.492A>G | ENSP00000416316.2:p.Pro164= | |
| ENST00000469597.2:c.*296A>G | ENSP00000498417.1:n.*296A>G | |
| ENST00000488080.6:n.291A>G | ||
| ENST00000650731.1:c.-28A>G | ENSP00000499146.1:n.-28A>G | |
| ENST00000650734.1:c.*548A>G | ENSP00000498742.1:n.*548A>G | |
| ENST00000650770.1:c.*562A>G | ENSP00000499036.1:n.*562A>G | |
| ENST00000650938.1:c.172A>G | ||
| ENST00000651246.1:c.240A>G | ENSP00000498484.1:p.Pro80= | |
| ENST00000651315.1:c.240A>G | ENSP00000498692.1:p.Pro80= | |
| ENST00000651373.1:c.162A>G | ENSP00000499174.1:p.Pro54= | |
| ENST00000651501.1:c.*95A>G | ENSP00000498894.1:n.*95A>G | |
| ENST00000651580.1:c.*227A>G | ENSP00000498631.1:n.*227A>G | |
| ENST00000651599.1:c.*132A>G | ENSP00000498535.1:n.*132A>G | |
| ENST00000651717.1:c.253-12016A>G | ENSP00000499124.1:n.253-12016A>G | |
| ENST00000651803.1:c.*640A>G | ENSP00000499007.1:n.*640A>G | |
| ENST00000651971.1:c.*448A>G | ENSP00000499035.1:n.*448A>G | |
| ENST00000652036.1:c.273A>G | ENSP00000499139.1:p.Pro91= | |
| ENST00000652154.1:n.546A>G | ||
| ENST00000652208.1:c.492A>G | ENSP00000498475.1:p.Pro164= | |
| ENST00000652434.1:c.609A>G | ENSP00000498549.1:p.Pro203= | |
| ENST00000652437.1:n.791A>G | ||
| ENST00000652674.1:c.*132A>G | ENSP00000498599.1:n.*132A>G | |
| ENST00000652734.1:n.545A>G | ||
| ENST00000652756.1:c.492A>G | ENSP00000498281.1:p.Pro164= | |
| ENST00000652768.1:n.540A>G | ||
| ENST00000295497.11:c.273A>G | ENSP00000295497.7:p.Pro91= | |
| ENST00000409089.6:c.-28A>G | ENSP00000386322.2:n.-28A>G | |
| ENST00000409156.7:c.570A>G | ENSP00000386470.3:p.Pro190= | |
| ENST00000409597.5:c.96A>G | ENSP00000386469.1:p.Pro32= | |
| ENST00000409900.7:c.648A>G | ENSP00000386741.3:p.Pro216= | |
| ENST00000413882.5:c.102A>G | ENSP00000410496.1:p.Pro34= | |
| ENST00000425395.5:c.*199A>G | ENSP00000405270.1:n.*199A>G | |
| ENST00000443238.5:c.126A>G | ENSP00000409798.1:p.Pro42= | |
| ENST00000444394.5:c.-28A>G | ENSP00000411911.1:n.-28A>G | |
| ENST00000444573.1:c.273A>G | ENSP00000392603.1:p.Pro91= | |
| ENST00000485882.1:n.107A>G | ||
| ENST00000488080.5:n.499A>G | ||
| NM_001025201.3:c.570A>G | NP_001020372.2:p.Pro190= | |
| NM_001206602.1:c.273A>G | NP_001193531.1:p.Pro91= | |
| NM_001822.5:c.648A>G | NP_001813.1:p.Pro216= | |
| NR_038133.1:n.514A>G | ||
| NM_001025201.4:c.570A>G | NP_001020372.2:p.Pro190= | |
| NM_001206602.2:c.273A>G | NP_001193531.1:p.Pro91= | |
| NM_001371513.1:c.648A>G | NP_001358442.1:p.Pro216= | |
| NM_001371514.1:c.699A>G | NP_001358443.1:p.Pro233= | |
| NM_001822.7:c.648A>G MANE Select | NP_001813.1:p.Pro216= | |
| NR_038133.2:n.516A>G |