Linked Data
dbSNP Id:
rs16941261
gnomAD v2:
15-88655520-G-C
gnomAD v3:
15-88112289-G-C
gnomAD v4:
15-88112289-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88112289G>C , CM000677.2:g.88112289G>C | GRCh38 |
| NC_000015.9:g.88655520G>C , CM000677.1:g.88655520G>C | GRCh37 |
| NC_000015.8:g.86456524G>C | NCBI36 |
| NG_029619.1:g.149443C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317501.9:c.1396+13982C>G | ENSP00000318328.3:n.1396+13982C>G | |
| ENST00000629765.3:c.1396+13982C>G MANE Select | ENSP00000485864.1:n.1396+13982C>G | |
| ENST00000695462.1:c.1396+13982C>G | ENSP00000511942.1:n.1396+13982C>G | |
| ENST00000695463.1:c.1078+13982C>G | ENSP00000511943.1:n.1078+13982C>G | |
| ENST00000317501.7:c.1396+13982C>G | ENSP00000318328.3:n.1396+13982C>G | |
| ENST00000355254.6:c.1372+13982C>G | ENSP00000347397.3:n.1372+13982C>G | |
| ENST00000357724.6:c.1372+13982C>G | ENSP00000350356.2:n.1372+13982C>G | |
| ENST00000360948.6:c.1396+13982C>G | ENSP00000354207.2:n.1396+13982C>G | |
| ENST00000394480.6:c.1396+13982C>G | ENSP00000377990.1:n.1396+13982C>G | |
| ENST00000540489.6:c.1396+13982C>G | ENSP00000444673.2:n.1396+13982C>G | |
| ENST00000542733.6:c.1102+13982C>G | ENSP00000437773.2:n.1102+13982C>G | |
| ENST00000557856.5:c.1372+13982C>G | ENSP00000453959.1:n.1372+13982C>G | |
| ENST00000557897.1:n.91+13982C>G | ||
| ENST00000558306.1:c.30+14873C>G | ENSP00000480693.1:n.30+14873C>G | |
| ENST00000558676.5:c.1372+13982C>G | ENSP00000453511.1:n.1372+13982C>G | |
| ENST00000560017.1:c.208+13982C>G | ENSP00000473475.1:n.208+13982C>G | |
| ENST00000626019.2:c.1396+13982C>G | ENSP00000486784.1:n.1396+13982C>G | |
| ENST00000629765.2:c.1396+13982C>G | ENSP00000485864.1:n.1396+13982C>G | |
| NM_001007156.2:c.1396+13982C>G | NP_001007157.1:n.1396+13982C>G | |
| NM_001012338.2:c.1396+13982C>G | NP_001012338.1:n.1396+13982C>G | |
| NM_001243101.1:c.1372+13982C>G | NP_001230030.1:n.1372+13982C>G | |
| NM_002530.3:c.1396+13982C>G | NP_002521.2:n.1396+13982C>G | |
| XM_006720543.2:c.1396+13982C>G | XP_006720606.1:n.1396+13982C>G | |
| XM_006720544.2:c.1372+13982C>G | XP_006720607.1:n.1372+13982C>G | |
| XM_006720545.2:c.1396+13982C>G | XP_006720608.1:n.1396+13982C>G | |
| XM_006720546.2:c.1396+13982C>G | XP_006720609.1:n.1396+13982C>G | |
| XM_006720547.2:c.1396+13982C>G | XP_006720610.1:n.1396+13982C>G | |
| XM_006720548.2:c.1396+13982C>G | XP_006720611.1:n.1396+13982C>G | |
| XM_006720549.2:c.1396+13982C>G | XP_006720612.1:n.1396+13982C>G | |
| XM_006720550.2:c.1372+13982C>G | XP_006720613.1:n.1372+13982C>G | |
| XM_011521634.1:c.1396+13982C>G | XP_011519936.1:n.1396+13982C>G | |
| XM_011521635.1:c.1396+13982C>G | XP_011519937.1:n.1396+13982C>G | |
| XM_011521636.1:c.1102+13982C>G | XP_011519938.1:n.1102+13982C>G | |
| XM_011521637.1:c.1396+13982C>G | XP_011519939.1:n.1396+13982C>G | |
| XM_011521638.1:c.1396+13982C>G | XP_011519940.1:n.1396+13982C>G | |
| XR_931841.1:n.1435+13982C>G | ||
| XR_931842.1:n.1460-12984C>G | ||
| NM_001320134.1:c.1396+13982C>G | NP_001307063.1:n.1396+13982C>G | |
| NM_001320135.1:c.1102+13982C>G | NP_001307064.1:n.1102+13982C>G | |
| XM_006720543.4:c.1396+13982C>G | XP_006720606.1:n.1396+13982C>G | |
| XM_006720544.4:c.1372+13982C>G | XP_006720607.1:n.1372+13982C>G | |
| XM_006720545.4:c.1396+13982C>G | XP_006720608.1:n.1396+13982C>G | |
| XM_006720548.4:c.1396+13982C>G | XP_006720611.1:n.1396+13982C>G | |
| XM_006720549.4:c.1396+13982C>G | XP_006720612.1:n.1396+13982C>G | |
| XM_006720550.4:c.1372+13982C>G | XP_006720613.1:n.1372+13982C>G | |
| XM_011521637.3:c.1396+13982C>G | XP_011519939.1:n.1396+13982C>G | |
| XM_011521638.3:c.1396+13982C>G | XP_011519940.1:n.1396+13982C>G | |
| XM_017022240.1:c.1396+13982C>G | XP_016877729.1:n.1396+13982C>G | |
| XM_017022241.1:c.1210+13982C>G | XP_016877730.1:n.1210+13982C>G | |
| XM_017022242.2:c.1396+13982C>G | XP_016877731.1:n.1396+13982C>G | |
| XM_017022243.1:c.1102+13982C>G | XP_016877732.1:n.1102+13982C>G | |
| XM_017022244.2:c.1102+13982C>G | XP_016877733.1:n.1102+13982C>G | |
| XM_017022245.2:c.1102+13982C>G | XP_016877734.1:n.1102+13982C>G | |
| XM_017022247.2:c.1372+13982C>G | XP_016877736.1:n.1372+13982C>G | |
| XM_017022248.2:c.1372+13982C>G | XP_016877737.1:n.1372+13982C>G | |
| XM_017022250.2:c.1397-12984C>G | XP_016877739.1:n.1397-12984C>G | |
| XM_017022251.2:c.289+13982C>G | XP_016877740.1:n.289+13982C>G | |
| XM_017022252.2:c.265+13982C>G | XP_016877741.1:n.265+13982C>G | |
| XM_017022253.2:c.1396+13982C>G | XP_016877742.1:n.1396+13982C>G | |
| XM_017022254.2:c.1396+13982C>G | XP_016877743.1:n.1396+13982C>G | |
| XM_024449933.1:c.1078+13982C>G | XP_024305701.1:n.1078+13982C>G | |
| XM_024449934.1:c.1396+13982C>G | XP_024305702.1:n.1396+13982C>G | |
| XM_024449935.1:c.1396+13982C>G | XP_024305703.1:n.1396+13982C>G | |
| XM_024449936.1:c.1102+13982C>G | XP_024305704.1:n.1102+13982C>G | |
| XR_001751292.2:n.2039+13982C>G | ||
| XR_001751293.2:n.2035-12984C>G | ||
| XR_002957645.1:n.2012-12984C>G | ||
| NM_001375810.1:c.1396+13982C>G | NP_001362739.1:n.1396+13982C>G | |
| NM_001375811.1:c.1396+13982C>G | NP_001362740.1:n.1396+13982C>G | |
| NM_001375812.1:c.1372+13982C>G | NP_001362741.1:n.1372+13982C>G | |
| NM_001375813.1:c.1396+13982C>G | NP_001362742.1:n.1396+13982C>G | |
| NM_001375814.1:c.1372+13982C>G | NP_001362743.1:n.1372+13982C>G | |
| NM_002530.4:c.1396+13982C>G | NP_002521.2:n.1396+13982C>G | |
| NM_001007156.3:c.1396+13982C>G | NP_001007157.1:n.1396+13982C>G | |
| NM_001012338.3:c.1396+13982C>G MANE Select | NP_001012338.1:n.1396+13982C>G | |
| NM_001243101.2:c.1372+13982C>G | NP_001230030.1:n.1372+13982C>G | |
| NM_001320135.2:c.1102+13982C>G | NP_001307064.1:n.1102+13982C>G |