Linked Data
ClinVar Variation Id:
1193293
ClinVar RCV Id:
RCV001555642
dbSNP Id:
rs138694529
gnomAD v2:
5-52954315-A-C
gnomAD v3:
5-53658485-A-C
gnomAD v4:
5-53658485-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53658485A>C , CM000667.2:g.53658485A>C | GRCh38 |
| NC_000005.9:g.52954315A>C , CM000667.1:g.52954315A>C | GRCh37 |
| NC_000005.8:g.52990072A>C | NCBI36 |
| NG_008200.1:g.102851A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296684.10:c.351-66A>C MANE Select | ENSP00000296684.5:n.351-66A>C | |
| ENST00000296684.9:c.351-66A>C | ENSP00000296684.5:n.351-66A>C | |
| ENST00000502423.5:c.*218-66A>C | ENSP00000422177.1:n.*218-66A>C | |
| ENST00000506765.1:c.338+12080A>C | ENSP00000424570.1:n.338+12080A>C | |
| ENST00000506974.5:c.*127-66A>C | ENSP00000425967.1:n.*127-66A>C | |
| ENST00000507026.5:c.*325-66A>C | ENSP00000424993.1:n.*325-66A>C | |
| ENST00000509443.1:n.212-66A>C | ||
| NM_002495.2:c.351-66A>C | NP_002486.1:n.351-66A>C | |
| XM_005248525.3:c.350+12080A>C | XP_005248582.1:n.350+12080A>C | |
| XM_011543415.1:c.177-66A>C | XP_011541717.1:n.177-66A>C | |
| NM_001318051.1:c.350+12080A>C | NP_001304980.1:n.350+12080A>C | |
| NM_002495.3:c.351-66A>C | NP_002486.1:n.351-66A>C | |
| NR_134473.1:n.553-66A>C | ||
| NR_134474.1:n.470-66A>C | ||
| NR_134475.1:n.505-66A>C | ||
| NM_002495.4:c.351-66A>C MANE Select | NP_002486.1:n.351-66A>C | |
| NM_001318051.2:c.350+12080A>C | NP_001304980.1:n.350+12080A>C | |
| NR_134473.2:n.547-66A>C | ||
| NR_134474.2:n.464-66A>C | ||
| NR_134475.2:n.499-66A>C |