Linked Data
dbSNP Id:
rs1470593773
gnomAD v2:
5-33963772-A-C
gnomAD v3:
5-33963667-A-C
gnomAD v4:
5-33963667-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33963667A>C , CM000667.2:g.33963667A>C | GRCh38 |
| NC_000005.9:g.33963772A>C , CM000667.1:g.33963772A>C | GRCh37 |
| NC_000005.8:g.33999529A>C | NCBI36 |
| NG_011691.2:g.26009T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.888+24T>G MANE Select | ENSP00000296589.4:n.888+24T>G | |
| ENST00000296589.8:c.888+24T>G | ENSP00000296589.4:n.888+24T>G | |
| ENST00000382102.7:c.888+24T>G | ENSP00000371534.3:n.888+24T>G | |
| ENST00000505056.1:n.714T>G | ||
| ENST00000509381.1:c.563-9163T>G | ENSP00000421100.1:n.563-9163T>G | |
| ENST00000510600.1:c.363+24T>G | ENSP00000424010.1:n.363+24T>G | |
| NM_001012509.3:c.888+24T>G | NP_001012527.1:n.888+24T>G | |
| NM_001297417.2:c.563-9163T>G | NP_001284346.2:n.563-9163T>G | |
| NM_016180.4:c.888+24T>G | NP_057264.3:n.888+24T>G | |
| XM_011514051.1:c.486+24T>G | XP_011512353.1:n.486+24T>G | |
| XM_011514052.1:c.888+24T>G | XP_011512354.1:n.888+24T>G | |
| XR_925620.1:n.1705+24T>G | ||
| NM_016180.5:c.888+24T>G MANE Select | NP_057264.4:n.888+24T>G | |
| NM_001012509.4:c.888+24T>G | NP_001012527.2:n.888+24T>G | |
| NM_001297417.3:c.563-9163T>G | NP_001284346.2:n.563-9163T>G | |
| NM_001297417.4:c.563-9163T>G | NP_001284346.2:n.563-9163T>G |