Linked Data
ClinVar Variation Id:
378569
dbSNP Id:
rs757504141
ExAC:
4:25158475 T / C
gnomAD v2:
4-25158475-T-C
gnomAD v3:
4-25156853-T-C
gnomAD v4:
4-25156853-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156853T>C , CM000666.2:g.25156853T>C | GRCh38 |
| NC_000004.11:g.25158475T>C , CM000666.1:g.25158475T>C | GRCh37 |
| NC_000004.10:g.24767573T>C | NCBI36 |
| NG_028222.1:g.8730A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382103.7:c.388+3A>G MANE Select | ENSP00000371535.2:n.388+3A>G | |
| ENST00000680581.1:c.388+3A>G | ENSP00000506483.1:n.388+3A>G | |
| ENST00000680824.1:n.1604+3A>G | ||
| ENST00000681071.1:n.680+3A>G | ||
| ENST00000681166.1:n.1435+3A>G | ||
| ENST00000681341.1:n.1529+3A>G | ||
| ENST00000681640.1:n.482+3A>G | ||
| ENST00000681948.1:c.643+3A>G | ENSP00000505991.1:n.643+3A>G | |
| ENST00000358971.7:c.*186+3A>G | ENSP00000351857.3:n.*186+3A>G | |
| ENST00000382103.6:c.388+3A>G | ENSP00000371535.2:n.388+3A>G | |
| ENST00000514585.5:c.*89+3A>G | ENSP00000421880.1:n.*89+3A>G | |
| NM_016955.3:c.388+3A>G | NP_058651.3:n.388+3A>G | |
| XM_005248168.2:c.151+3A>G | XP_005248225.1:n.151+3A>G | |
| XM_006713965.2:c.208+3A>G | XP_006714028.1:n.208+3A>G | |
| XM_011513846.1:c.385+3A>G | XP_011512148.1:n.385+3A>G | |
| XM_011513847.1:c.355+3A>G | XP_011512149.1:n.355+3A>G | |
| XM_011513848.1:c.208+3A>G | XP_011512150.1:n.208+3A>G | |
| XM_011513846.2:c.385+3A>G | XP_011512148.1:n.385+3A>G | |
| XM_011513847.2:c.355+3A>G | XP_011512149.1:n.355+3A>G | |
| XM_017008277.1:c.643+3A>G | XP_016863766.1:n.643+3A>G | |
| XM_017008278.1:c.-36+3A>G | XP_016863767.1:n.-36+3A>G | |
| NM_016955.4:c.388+3A>G MANE Select | NP_058651.3:n.388+3A>G |