Linked Data
dbSNP Id:
rs1435978477
gnomAD v2:
4-100341648-A-C
gnomAD v3:
4-99420491-A-C
gnomAD v4:
4-99420491-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420491A>C , CM000666.2:g.99420491A>C | GRCh38 |
| NC_000004.11:g.100341648A>C , CM000666.1:g.100341648A>C | GRCh37 |
| NC_000004.10:g.100560671A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.825+42T>G MANE Select | ENSP00000414254.2:n.825+42T>G | |
| ENST00000209665.8:c.861+42T>G | ENSP00000209665.4:n.861+42T>G | |
| ENST00000437033.6:c.825+42T>G | ENSP00000414254.2:n.825+42T>G | |
| ENST00000476959.5:c.885+42T>G | ENSP00000420269.1:n.885+42T>G | |
| ENST00000482593.5:c.654+42T>G | ENSP00000420613.1:n.654+42T>G | |
| NM_000673.4:c.861+42T>G | NP_000664.2:n.861+42T>G | |
| NM_001166504.1:c.885+42T>G | NP_001159976.1:n.885+42T>G | |
| NM_000673.7:c.825+42T>G MANE Select | NP_000664.3:n.825+42T>G | |
| NM_001166504.2:c.885+42T>G | NP_001159976.1:n.885+42T>G |