Linked Data
dbSNP Id:
rs28521337
gnomAD v2:
15-88521280-C-G
gnomAD v3:
15-87978049-C-G
gnomAD v4:
15-87978049-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.87978049C>G , CM000677.2:g.87978049C>G | GRCh38 |
| NC_000015.9:g.88521280C>G , CM000677.1:g.88521280C>G | GRCh37 |
| NC_000015.8:g.86322284C>G | NCBI36 |
| NG_029619.1:g.283683G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317501.9:c.*1296G>C | ENSP00000318328.3:n.*1296G>C | |
| ENST00000629765.3:c.1586-37296G>C MANE Select | ENSP00000485864.1:n.1586-37296G>C | |
| ENST00000695462.1:c.1586-37296G>C | ENSP00000511942.1:n.1586-37296G>C | |
| ENST00000695463.1:c.*1296G>C | ENSP00000511943.1:n.*1296G>C | |
| ENST00000317501.7:c.*1296G>C | ENSP00000318328.3:n.*1296G>C | |
| ENST00000355254.6:c.1562-37296G>C | ENSP00000347397.3:n.1562-37296G>C | |
| ENST00000357724.6:c.1562-37296G>C | ENSP00000350356.2:n.1562-37296G>C | |
| ENST00000360948.6:c.1586-37296G>C | ENSP00000354207.2:n.1586-37296G>C | |
| ENST00000394480.6:c.1586-37296G>C | ENSP00000377990.1:n.1586-37296G>C | |
| ENST00000542733.6:c.1292-37296G>C | ENSP00000437773.2:n.1292-37296G>C | |
| ENST00000557856.5:c.1562-37296G>C | ENSP00000453959.1:n.1562-37296G>C | |
| ENST00000558676.5:c.1562-37296G>C | ENSP00000453511.1:n.1562-37296G>C | |
| ENST00000560201.1:n.200-458G>C | ||
| ENST00000626019.2:c.1586-37296G>C | ENSP00000486784.1:n.1586-37296G>C | |
| ENST00000629765.2:c.1586-37296G>C | ENSP00000485864.1:n.1586-37296G>C | |
| NM_001007156.2:c.*1296G>C | NP_001007157.1:n.*1296G>C | |
| NM_001012338.2:c.1586-37296G>C | NP_001012338.1:n.1586-37296G>C | |
| NM_001243101.1:c.1562-37296G>C | NP_001230030.1:n.1562-37296G>C | |
| NM_002530.3:c.1586-37296G>C | NP_002521.2:n.1586-37296G>C | |
| XM_006720543.2:c.1586-37296G>C | XP_006720606.1:n.1586-37296G>C | |
| XM_006720544.2:c.1562-37296G>C | XP_006720607.1:n.1562-37296G>C | |
| XM_006720545.2:c.1586-37296G>C | XP_006720608.1:n.1586-37296G>C | |
| XM_006720546.2:c.*1296G>C | XP_006720609.1:n.*1296G>C | |
| XM_011521634.1:c.1586-37296G>C | XP_011519936.1:n.1586-37296G>C | |
| XM_011521635.1:c.1586-37296G>C | XP_011519937.1:n.1586-37296G>C | |
| XM_011521636.1:c.1292-37296G>C | XP_011519938.1:n.1292-37296G>C | |
| XM_011521637.1:c.*1296G>C | XP_011519939.1:n.*1296G>C | |
| XR_931841.1:n.1788-37296G>C | ||
| NM_001320134.1:c.*1296G>C | NP_001307063.1:n.*1296G>C | |
| NM_001320135.1:c.1292-37296G>C | NP_001307064.1:n.1292-37296G>C | |
| XM_006720543.4:c.1586-37296G>C | XP_006720606.1:n.1586-37296G>C | |
| XM_006720544.4:c.1562-37296G>C | XP_006720607.1:n.1562-37296G>C | |
| XM_006720545.4:c.1586-37296G>C | XP_006720608.1:n.1586-37296G>C | |
| XM_011521637.3:c.*1296G>C | XP_011519939.1:n.*1296G>C | |
| XM_017022240.1:c.1586-37296G>C | XP_016877729.1:n.1586-37296G>C | |
| XM_017022241.1:c.1400-37296G>C | XP_016877730.1:n.1400-37296G>C | |
| XM_017022242.2:c.1586-37296G>C | XP_016877731.1:n.1586-37296G>C | |
| XM_017022243.1:c.1292-37296G>C | XP_016877732.1:n.1292-37296G>C | |
| XM_017022244.2:c.1292-37296G>C | XP_016877733.1:n.1292-37296G>C | |
| XM_017022245.2:c.1292-37296G>C | XP_016877734.1:n.1292-37296G>C | |
| XM_017022247.2:c.*1296G>C | XP_016877736.1:n.*1296G>C | |
| XM_017022248.2:c.*1296G>C | XP_016877737.1:n.*1296G>C | |
| XM_017022251.2:c.479-37296G>C | XP_016877740.1:n.479-37296G>C | |
| XM_017022252.2:c.455-37296G>C | XP_016877741.1:n.455-37296G>C | |
| XM_017022253.2:c.1586-37296G>C | XP_016877742.1:n.1586-37296G>C | |
| XM_017022254.2:c.1586-37296G>C | XP_016877743.1:n.1586-37296G>C | |
| XM_024449933.1:c.1268-37296G>C | XP_024305701.1:n.1268-37296G>C | |
| XM_024449934.1:c.*1296G>C | XP_024305702.1:n.*1296G>C | |
| XM_024449936.1:c.*1296G>C | XP_024305704.1:n.*1296G>C | |
| XR_001751292.2:n.2229-37296G>C | ||
| NM_001375810.1:c.1586-37296G>C | NP_001362739.1:n.1586-37296G>C | |
| NM_001375811.1:c.1586-37296G>C | NP_001362740.1:n.1586-37296G>C | |
| NM_001375812.1:c.1562-37296G>C | NP_001362741.1:n.1562-37296G>C | |
| NM_001375813.1:c.*1296G>C | NP_001362742.1:n.*1296G>C | |
| NM_001375814.1:c.*1296G>C | NP_001362743.1:n.*1296G>C | |
| NM_002530.4:c.1586-37296G>C | NP_002521.2:n.1586-37296G>C | |
| NM_001007156.3:c.*1296G>C | NP_001007157.1:n.*1296G>C | |
| NM_001012338.3:c.1586-37296G>C MANE Select | NP_001012338.1:n.1586-37296G>C | |
| NM_001243101.2:c.1562-37296G>C | NP_001230030.1:n.1562-37296G>C | |
| NM_001320135.2:c.1292-37296G>C | NP_001307064.1:n.1292-37296G>C |