Linked Data
ClinVar Variation Id:
2871393
ClinVar RCV Id:
RCV003698447
dbSNP Id:
rs1416874635
gnomAD v2:
4-25146770-A-G
gnomAD v4:
4-25145148-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25145148A>G , CM000666.2:g.25145148A>G | GRCh38 |
| NC_000004.11:g.25146770A>G , CM000666.1:g.25146770A>G | GRCh37 |
| NC_000004.10:g.24755868A>G | NCBI36 |
| NG_028222.1:g.20435T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.805-15T>C MANE Select | ENSP00000371535.2:n.805-15T>C | |
| ENST00000680581.1:c.805-15T>C | ENSP00000506483.1:n.805-15T>C | |
| ENST00000680824.1:n.2021-15T>C | ||
| ENST00000681071.1:n.1097-15T>C | ||
| ENST00000681341.1:n.1946-15T>C | ||
| ENST00000681948.1:c.1060-15T>C | ENSP00000505991.1:n.1060-15T>C | |
| ENST00000358971.7:c.*603-15T>C | ENSP00000351857.3:n.*603-15T>C | |
| ENST00000382103.6:c.805-15T>C | ENSP00000371535.2:n.805-15T>C | |
| ENST00000503150.1:c.217-283T>C | ||
| ENST00000505513.1:n.235-283T>C | ||
| ENST00000514585.5:c.*506-15T>C | ENSP00000421880.1:n.*506-15T>C | |
| NM_016955.3:c.805-15T>C | NP_058651.3:n.805-15T>C | |
| XM_005248168.2:c.568-15T>C | XP_005248225.1:n.568-15T>C | |
| XM_006713965.2:c.625-15T>C | XP_006714028.1:n.625-15T>C | |
| XM_011513846.1:c.802-15T>C | XP_011512148.1:n.802-15T>C | |
| XM_011513847.1:c.772-15T>C | XP_011512149.1:n.772-15T>C | |
| XM_011513848.1:c.625-15T>C | XP_011512150.1:n.625-15T>C | |
| XM_011513846.2:c.802-15T>C | XP_011512148.1:n.802-15T>C | |
| XM_011513847.2:c.772-15T>C | XP_011512149.1:n.772-15T>C | |
| XM_017008277.1:c.1060-15T>C | XP_016863766.1:n.1060-15T>C | |
| XM_017008278.1:c.382-15T>C | XP_016863767.1:n.382-15T>C | |
| NM_016955.4:c.805-15T>C MANE Select | NP_058651.3:n.805-15T>C |