Linked Data
ClinVar Variation Id:
2076164
ClinVar RCV Id:
RCV002972181
dbSNP Id:
rs1331412786
gnomAD v2:
5-125885714-T-C
gnomAD v3:
5-126550022-T-C
gnomAD v4:
5-126550022-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126550022T>C , CM000667.2:g.126550022T>C | GRCh38 |
| NC_000005.9:g.125885714T>C , CM000667.1:g.125885714T>C | GRCh37 |
| NC_000005.8:g.125913613T>C | NCBI36 |
| NG_008600.2:g.50369A>G | |
| NG_008600.3:g.50369A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1416-20A>G MANE Select | ENSP00000387123.3:n.1416-20A>G | |
| ENST00000458249.6:c.*1325-20A>G | ENSP00000403929.1:n.*1325-20A>G | |
| ENST00000485852.7:n.143A>G | ||
| ENST00000497231.7:n.1843-20A>G | ||
| ENST00000635851.1:c.1414-20A>G | ||
| ENST00000636062.1:n.1311-20A>G | ||
| ENST00000636225.1:c.*1360-20A>G | ENSP00000490797.1:n.*1360-20A>G | |
| ENST00000636286.1:n.1181-20A>G | ||
| ENST00000636482.1:n.950-20A>G | ||
| ENST00000636743.1:c.1296-20A>G | ENSP00000489725.1:n.1296-20A>G | |
| ENST00000636808.1:c.*1225-20A>G | ENSP00000490833.1:n.*1225-20A>G | |
| ENST00000636872.1:c.1576-20A>G | ENSP00000490919.1:n.1576-20A>G | |
| ENST00000636879.1:c.1461-20A>G | ENSP00000490811.1:n.1461-20A>G | |
| ENST00000636886.1:c.1215-20A>G | ENSP00000490371.1:n.1215-20A>G | |
| ENST00000637206.1:c.1236-20A>G | ENSP00000489895.1:n.1236-20A>G | |
| ENST00000637272.1:c.1407-20A>G | ENSP00000489686.1:n.1407-20A>G | |
| ENST00000637292.1:c.872-20A>G | ||
| ENST00000637782.1:c.1416-20A>G | ENSP00000490024.1:n.1416-20A>G | |
| ENST00000638008.1:c.*1260-20A>G | ENSP00000490400.1:n.*1260-20A>G | |
| ENST00000638010.1:n.1362-20A>G | ||
| ENST00000409134.7:c.1416-20A>G | ENSP00000387123.3:n.1416-20A>G | |
| ENST00000447989.6:c.1305-20A>G | ENSP00000414132.2:n.1305-20A>G | |
| ENST00000476328.1:n.354A>G | ||
| ENST00000485852.6:n.143A>G | ||
| ENST00000497231.6:n.1626-20A>G | ||
| ENST00000553117.5:c.1224-20A>G | ENSP00000448593.1:n.1224-20A>G | |
| NM_001182.4:c.1416-20A>G | NP_001173.2:n.1416-20A>G | |
| NM_001201377.1:c.1332-20A>G | NP_001188306.1:n.1332-20A>G | |
| NM_001202404.1:c.1305-20A>G | NP_001189333.1:n.1305-20A>G | |
| XM_011543417.1:c.1011-20A>G | XP_011541719.1:n.1011-20A>G | |
| XM_011543417.2:c.1011-20A>G | XP_011541719.1:n.1011-20A>G | |
| NM_001182.5:c.1416-20A>G MANE Select | NP_001173.2:n.1416-20A>G | |
| NM_001201377.2:c.1332-20A>G | NP_001188306.1:n.1332-20A>G | |
| NM_001202404.2:c.1224-20A>G | NP_001189333.2:n.1224-20A>G |