Linked Data
dbSNP Id:
rs13182402
gnomAD v2:
5-125918148-A-G
gnomAD v3:
5-126582456-A-G
gnomAD v4:
5-126582456-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126582456A>G , CM000667.2:g.126582456A>G | GRCh38 |
| NC_000005.9:g.125918148A>G , CM000667.1:g.125918148A>G | GRCh37 |
| NC_000005.8:g.125946047A>G | NCBI36 |
| NG_008600.2:g.17935T>C | |
| NG_008600.3:g.17935T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409134.8:c.517+395T>C MANE Select | ENSP00000387123.3:n.517+395T>C | |
| ENST00000412186.2:c.393+1476T>C | ENSP00000414536.2:n.393+1476T>C | |
| ENST00000413020.6:c.517+395T>C | ENSP00000487936.1:n.517+395T>C | |
| ENST00000458249.6:c.*426+395T>C | ENSP00000403929.1:n.*426+395T>C | |
| ENST00000503281.6:c.107-5245T>C | ||
| ENST00000509270.2:c.451+395T>C | ENSP00000449318.2:n.451+395T>C | |
| ENST00000509459.6:c.66-5245T>C | ||
| ENST00000511266.6:n.1239+395T>C | ||
| ENST00000635851.1:c.515+395T>C | ||
| ENST00000636062.1:n.412+395T>C | ||
| ENST00000636190.1:n.397-307T>C | ||
| ENST00000636225.1:c.*326+395T>C | ENSP00000490797.1:n.*326+395T>C | |
| ENST00000636286.1:n.235+395T>C | ||
| ENST00000636743.1:c.397+395T>C | ENSP00000489725.1:n.397+395T>C | |
| ENST00000636808.1:c.*326+395T>C | ENSP00000490833.1:n.*326+395T>C | |
| ENST00000636872.1:c.677+395T>C | ENSP00000490919.1:n.677+395T>C | |
| ENST00000636879.1:c.518-307T>C | ENSP00000490811.1:n.518-307T>C | |
| ENST00000636886.1:c.316+395T>C | ENSP00000490371.1:n.316+395T>C | |
| ENST00000637206.1:c.517+395T>C | ENSP00000489895.1:n.517+395T>C | |
| ENST00000637272.1:c.517+395T>C | ENSP00000489686.1:n.517+395T>C | |
| ENST00000637292.1:c.170+395T>C | ||
| ENST00000637782.1:c.517+395T>C | ENSP00000490024.1:n.517+395T>C | |
| ENST00000637964.1:c.463+395T>C | ENSP00000490291.1:n.463+395T>C | |
| ENST00000638008.1:c.*459+395T>C | ENSP00000490400.1:n.*459+395T>C | |
| ENST00000409134.7:c.517+395T>C | ENSP00000387123.3:n.517+395T>C | |
| ENST00000413020.5:c.517+395T>C | ENSP00000487936.1:n.517+395T>C | |
| ENST00000447989.6:c.598+395T>C | ENSP00000414132.2:n.598+395T>C | |
| ENST00000458249.5:c.677+395T>C | ENSP00000403929.1:n.677+395T>C | |
| ENST00000503281.5:c.107-5245T>C | ||
| ENST00000509270.1:c.397+395T>C | ENSP00000449318.1:n.397+395T>C | |
| ENST00000509459.5:c.66-5245T>C | ||
| ENST00000510111.6:c.430+395T>C | ENSP00000447388.1:n.430+395T>C | |
| ENST00000511266.5:n.348+1476T>C | ||
| ENST00000553117.5:c.517+395T>C | ENSP00000448593.1:n.517+395T>C | |
| NM_001182.4:c.517+395T>C | NP_001173.2:n.517+395T>C | |
| NM_001201377.1:c.433+395T>C | NP_001188306.1:n.433+395T>C | |
| NM_001202404.1:c.598+395T>C | NP_001189333.1:n.598+395T>C | |
| XM_011543417.1:c.112+395T>C | XP_011541719.1:n.112+395T>C | |
| XM_011543417.2:c.112+395T>C | XP_011541719.1:n.112+395T>C | |
| NM_001182.5:c.517+395T>C MANE Select | NP_001173.2:n.517+395T>C | |
| NM_001201377.2:c.433+395T>C | NP_001188306.1:n.433+395T>C | |
| NM_001202404.2:c.517+395T>C | NP_001189333.2:n.517+395T>C |