Linked Data
ClinVar Variation Id:
130290
dbSNP Id:
rs2302564
ExAC:
4:25146492 A / C
gnomAD v2:
4-25146492-A-C
gnomAD v3:
4-25144870-A-C
gnomAD v4:
4-25144870-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25144870A>C , CM000666.2:g.25144870A>C | GRCh38 |
| NC_000004.11:g.25146492A>C , CM000666.1:g.25146492A>C | GRCh37 |
| NC_000004.10:g.24755590A>C | NCBI36 |
| NG_028222.1:g.20713T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.935-5T>G MANE Select | ENSP00000371535.2:n.935-5T>G | |
| ENST00000680581.1:c.935-5T>G | ENSP00000506483.1:n.935-5T>G | |
| ENST00000680824.1:n.2151-5T>G | ||
| ENST00000681071.1:n.1227-5T>G | ||
| ENST00000681341.1:n.2076-5T>G | ||
| ENST00000681948.1:c.1190-5T>G | ENSP00000505991.1:n.1190-5T>G | |
| ENST00000358971.7:c.*733-5T>G | ENSP00000351857.3:n.*733-5T>G | |
| ENST00000382103.6:c.935-5T>G | ENSP00000371535.2:n.935-5T>G | |
| ENST00000503150.1:c.217-5T>G | ||
| ENST00000505513.1:n.235-5T>G | ||
| ENST00000514585.5:c.*636-5T>G | ENSP00000421880.1:n.*636-5T>G | |
| NM_016955.3:c.935-5T>G | NP_058651.3:n.935-5T>G | |
| XM_005248168.2:c.698-5T>G | XP_005248225.1:n.698-5T>G | |
| XM_006713965.2:c.755-5T>G | XP_006714028.1:n.755-5T>G | |
| XM_011513846.1:c.932-5T>G | XP_011512148.1:n.932-5T>G | |
| XM_011513847.1:c.902-5T>G | XP_011512149.1:n.902-5T>G | |
| XM_011513848.1:c.755-5T>G | XP_011512150.1:n.755-5T>G | |
| XM_011513846.2:c.932-5T>G | XP_011512148.1:n.932-5T>G | |
| XM_011513847.2:c.902-5T>G | XP_011512149.1:n.902-5T>G | |
| XM_017008277.1:c.1190-5T>G | XP_016863766.1:n.1190-5T>G | |
| XM_017008278.1:c.512-5T>G | XP_016863767.1:n.512-5T>G | |
| NM_016955.4:c.935-5T>G MANE Select | NP_058651.3:n.935-5T>G |