Linked Data
ClinVar Variation Id:
348541
ClinVar RCV Id:
RCV000326174
dbSNP Id:
rs886059351
gnomAD v4:
4-25123461-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25123461A>C , CM000666.2:g.25123461A>C | GRCh38 |
| NC_000004.11:g.25125083A>C , CM000666.1:g.25125083A>C | GRCh37 |
| NC_000004.10:g.24734181A>C | NCBI36 |
| NG_028222.1:g.42122T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.*470T>G MANE Select | ENSP00000371535.2:n.*470T>G | |
| ENST00000680581.1:c.*850T>G | ENSP00000506483.1:n.*850T>G | |
| ENST00000680824.1:n.3192T>G | ||
| ENST00000681071.1:n.2268T>G | ||
| ENST00000681341.1:n.3023T>G | ||
| ENST00000681374.1:n.1332T>G | ||
| ENST00000681948.1:c.*470T>G | ENSP00000505991.1:n.*470T>G | |
| ENST00000358971.7:c.*1774T>G | ENSP00000351857.3:n.*1774T>G | |
| ENST00000382103.6:c.*470T>G | ENSP00000371535.2:n.*470T>G | |
| NM_016955.3:c.*470T>G | NP_058651.3:n.*470T>G | |
| XM_005248168.2:c.*470T>G | XP_005248225.1:n.*470T>G | |
| XM_006713965.2:c.*470T>G | XP_006714028.1:n.*470T>G | |
| XM_011513846.1:c.*470T>G | XP_011512148.1:n.*470T>G | |
| XM_011513847.1:c.*470T>G | XP_011512149.1:n.*470T>G | |
| XM_011513848.1:c.*470T>G | XP_011512150.1:n.*470T>G | |
| XM_011513846.2:c.*470T>G | XP_011512148.1:n.*470T>G | |
| XM_011513847.2:c.*470T>G | XP_011512149.1:n.*470T>G | |
| XM_017008277.1:c.*470T>G | XP_016863766.1:n.*470T>G | |
| XM_017008278.1:c.*470T>G | XP_016863767.1:n.*470T>G | |
| NM_016955.4:c.*470T>G MANE Select | NP_058651.3:n.*470T>G |