Linked Data
dbSNP Id:
rs10500298
gnomAD v2:
19-48648471-T-C
gnomAD v3:
19-48145214-T-C
gnomAD v4:
19-48145214-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48145214T>C , CM000681.2:g.48145214T>C | GRCh38 |
| NC_000019.9:g.48648471T>C , CM000681.1:g.48648471T>C | GRCh37 |
| NC_000019.8:g.53340283T>C | NCBI36 |
| NG_007395.1:g.30090A>G , LRG_78:g.30090A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000596549.6:c.573-1251A>G | ENSP00000471861.2:n.573-1251A>G | |
| ENST00000596672.6:c.687-1251A>G | ENSP00000472331.2:n.687-1251A>G | |
| ENST00000699866.1:c.774-1251A>G | ENSP00000514663.1:n.774-1251A>G | |
| ENST00000699867.1:n.794-1251A>G | ||
| ENST00000699868.1:c.777-1251A>G | ENSP00000514664.1:n.777-1251A>G | |
| ENST00000699869.1:c.684-1251A>G | ENSP00000514665.1:n.684-1251A>G | |
| ENST00000699870.1:c.669-1251A>G | ENSP00000514666.1:n.669-1251A>G | |
| ENST00000699871.1:c.678-1251A>G | ENSP00000514667.1:n.678-1251A>G | |
| ENST00000699872.1:c.*546-1251A>G | ENSP00000514668.1:n.*546-1251A>G | |
| ENST00000699873.1:c.687-1251A>G | ENSP00000514669.1:n.687-1251A>G | |
| ENST00000699874.1:c.687-1251A>G | ENSP00000514670.1:n.687-1251A>G | |
| ENST00000699875.1:c.774-1251A>G | ENSP00000514671.1:n.774-1251A>G | |
| ENST00000699877.1:c.774-1251A>G | ENSP00000514672.1:n.774-1251A>G | |
| ENST00000699878.1:c.774-1251A>G | ENSP00000514673.1:n.774-1251A>G | |
| ENST00000699879.1:n.935-1251A>G | ||
| ENST00000699880.1:n.935-1251A>G | ||
| ENST00000263274.12:c.777-1251A>G MANE Select | ENSP00000263274.6:n.777-1251A>G | |
| ENST00000263274.11:c.777-1251A>G | ENSP00000263274.6:n.777-1251A>G | |
| ENST00000427526.6:c.684-1251A>G | ENSP00000442841.1:n.684-1251A>G | |
| ENST00000536218.5:c.573-1251A>G | ENSP00000441531.1:n.573-1251A>G | |
| ENST00000542460.5:c.681-1251A>G | ENSP00000445928.1:n.681-1251A>G | |
| ENST00000594067.5:n.533-1251A>G | ||
| ENST00000594759.5:c.774-1251A>G | ENSP00000471380.1:n.774-1251A>G | |
| ENST00000601091.5:c.777-1251A>G | ENSP00000471836.1:n.777-1251A>G | |
| ENST00000613670.4:c.777-1251A>G | ENSP00000483027.1:n.777-1251A>G | |
| NM_000234.2:c.777-1251A>G | NP_000225.1:n.777-1251A>G | |
| NM_001289063.1:c.684-1251A>G | NP_001275992.1:n.684-1251A>G | |
| NM_001289064.1:c.573-1251A>G | NP_001275993.1:n.573-1251A>G | |
| NR_110296.1:n.1194-1251A>G | ||
| XM_005258934.2:c.687-1251A>G | XP_005258991.1:n.687-1251A>G | |
| XM_006723215.2:c.774-1251A>G | XP_006723278.1:n.774-1251A>G | |
| XM_006723216.2:c.777-1251A>G | XP_006723279.1:n.777-1251A>G | |
| XR_243932.2:n.834-1251A>G | ||
| XR_430200.1:n.834-1251A>G | ||
| NM_001320970.1:c.774-1251A>G | NP_001307899.1:n.774-1251A>G | |
| NM_001320971.1:c.687-1251A>G | NP_001307900.1:n.687-1251A>G | |
| NR_135497.1:n.1197-1251A>G | ||
| NR_135498.1:n.1107-1251A>G | ||
| NR_135499.1:n.1107-1251A>G | ||
| NR_135500.1:n.1374-1251A>G | ||
| NR_135501.1:n.1104-1251A>G | ||
| XM_024451513.1:c.669-1251A>G | XP_024307281.1:n.669-1251A>G | |
| XR_001753965.2:n.80T>C | ||
| XR_001753966.2:n.80T>C | ||
| XR_002958315.1:n.1189-1251A>G | ||
| XR_002958316.1:n.1081-1251A>G | ||
| NM_000234.3:c.777-1251A>G MANE Select | NP_000225.1:n.777-1251A>G | |
| NM_001289063.2:c.684-1251A>G | NP_001275992.1:n.684-1251A>G | |
| NM_001320970.2:c.774-1251A>G | NP_001307899.1:n.774-1251A>G | |
| NM_001320971.2:c.687-1251A>G | NP_001307900.1:n.687-1251A>G | |
| NR_110296.2:n.935-1251A>G | ||
| NR_135497.2:n.938-1251A>G | ||
| NR_135498.2:n.848-1251A>G | ||
| NR_135499.2:n.848-1251A>G | ||
| NR_135500.2:n.1115-1251A>G | ||
| NR_135501.2:n.845-1251A>G | ||
| NM_001289064.2:c.573-1251A>G | NP_001275993.1:n.573-1251A>G |