Linked Data
ClinVar Variation Id:
346396
ClinVar RCV Id:
RCV000383168
dbSNP Id:
rs886058776
gnomAD v2:
3-58413401-T-C
gnomAD v3:
3-58427674-T-C
gnomAD v4:
3-58427674-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58427674T>C , CM000665.2:g.58427674T>C | GRCh38 |
| NC_000003.11:g.58413401T>C , CM000665.1:g.58413401T>C | GRCh37 |
| NC_000003.10:g.58388441T>C | NCBI36 |
| NG_016860.1:g.11179A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.*360A>G MANE Select | ENSP00000307241.6:n.*360A>G | |
| ENST00000302746.10:c.*360A>G | ENSP00000307241.6:n.*360A>G | |
| ENST00000383714.8:c.*360A>G | ENSP00000373220.4:n.*360A>G | |
| ENST00000469364.5:c.*826A>G | ENSP00000419580.1:n.*826A>G | |
| ENST00000485460.5:c.*360A>G | ENSP00000417267.1:n.*360A>G | |
| NM_000925.3:c.*360A>G | NP_000916.2:n.*360A>G | |
| NM_001173468.1:c.*360A>G | NP_001166939.1:n.*360A>G | |
| NM_001315536.1:c.*360A>G | NP_001302465.1:n.*360A>G | |
| NR_033384.1:n.1553A>G | ||
| NM_000925.4:c.*360A>G MANE Select | NP_000916.2:n.*360A>G | |
| NM_001173468.2:c.*360A>G | NP_001166939.1:n.*360A>G | |
| NM_001315536.2:c.*360A>G | NP_001302465.1:n.*360A>G | |
| NR_033384.2:n.1546A>G |