Linked Data
ClinVar Variation Id:
1232032
dbSNP Id:
rs200752186
ExAC:
3:58413918 A / C
gnomAD v2:
3-58413918-A-C
gnomAD v3:
3-58428191-A-C
gnomAD v4:
3-58428191-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58428191A>C , CM000665.2:g.58428191A>C | GRCh38 |
| NC_000003.11:g.58413918A>C , CM000665.1:g.58413918A>C | GRCh37 |
| NC_000003.10:g.58388958A>C | NCBI36 |
| NG_016860.1:g.10662T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.935-12T>G MANE Select | ENSP00000307241.6:n.935-12T>G | |
| ENST00000302746.10:c.935-12T>G | ENSP00000307241.6:n.935-12T>G | |
| ENST00000383714.8:c.881-12T>G | ENSP00000373220.4:n.881-12T>G | |
| ENST00000461692.5:n.1048-12T>G | ||
| ENST00000469364.5:c.*321-12T>G | ENSP00000419580.1:n.*321-12T>G | |
| ENST00000474765.1:c.1002-12T>G | ENSP00000418448.1:n.1002-12T>G | |
| ENST00000479945.1:n.3949T>G | ||
| ENST00000485460.5:c.881-12T>G | ENSP00000417267.1:n.881-12T>G | |
| NM_000925.3:c.935-12T>G | NP_000916.2:n.935-12T>G | |
| NM_001173468.1:c.881-12T>G | NP_001166939.1:n.881-12T>G | |
| NM_001315536.1:c.881-12T>G | NP_001302465.1:n.881-12T>G | |
| NR_033384.1:n.1048-12T>G | ||
| NM_000925.4:c.935-12T>G MANE Select | NP_000916.2:n.935-12T>G | |
| NM_001173468.2:c.881-12T>G | NP_001166939.1:n.881-12T>G | |
| NM_001315536.2:c.881-12T>G | NP_001302465.1:n.881-12T>G | |
| NR_033384.2:n.1041-12T>G |