Linked Data
ClinVar Variation Id:
386488
ClinVar RCV Id:
RCV000427090
dbSNP Id:
rs755310531
ExAC:
2:48010323 C / G
gnomAD v2:
2-48010323-C-G
gnomAD v4:
2-47783184-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783184C>G , CM000664.2:g.47783184C>G | GRCh38 |
| NC_000002.11:g.48010323C>G , CM000664.1:g.48010323C>G | GRCh37 |
| NC_000002.10:g.47863827C>G | NCBI36 |
| NG_007111.1:g.5038C>G , LRG_219:g.5038C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700004.2:c.-50C>G | ENSP00000514752.2:n.-50C>G | |
| ENST00000699999.1:n.35C>G | ||
| ENST00000700000.1:c.-50C>G | ENSP00000514749.1:n.-50C>G | |
| ENST00000700001.1:n.23C>G | ||
| ENST00000700002.1:c.-50C>G | ENSP00000514750.1:n.-50C>G | |
| ENST00000234420.11:c.-50C>G MANE Select | ENSP00000234420.5:n.-50C>G | |
| ENST00000540021.6:c.-50C>G | ENSP00000446475.1:n.-50C>G | |
| ENST00000652107.1:c.-37-7743C>G | ENSP00000498629.1:n.-37-7743C>G | |
| ENST00000673637.1:c.-85C>G | ENSP00000501310.1:n.-85C>G | |
| ENST00000673922.1:n.40C>G | ||
| ENST00000234420.9:c.-50C>G | ENSP00000234420.4:n.-50C>G | |
| ENST00000445503.5:c.-50C>G | ENSP00000405294.1:n.-50C>G | |
| ENST00000456246.1:c.-50C>G | ENSP00000410570.1:n.-50C>G | |
| ENST00000493177.1:n.15C>G | ||
| ENST00000540021.5:c.-50C>G | ENSP00000446475.1:n.-50C>G | |
| ENST00000606499.1:c.-37-7743C>G | ENSP00000475605.1:n.-37-7743C>G | |
| ENST00000614496.4:c.-786C>G | ENSP00000477844.1:n.-786C>G | |
| ENST00000616033.4:c.-50C>G | ENSP00000480261.1:n.-50C>G | |
| ENST00000622629.4:c.-3146C>G | ENSP00000482078.1:n.-3146C>G | |
| NM_000179.2:c.-50C>G , LRG_219t1:c.-50C>G | NP_000170.1:n.-50C>G | |
| NM_001281492.1:c.-50C>G | NP_001268421.1:n.-50C>G | |
| NM_001281493.1:c.-786C>G | NP_001268422.1:n.-786C>G | |
| XM_011532800.1:c.-85C>G | XP_011531102.1:n.-85C>G | |
| XM_024452819.1:c.-50C>G | XP_024308587.1:n.-50C>G | |
| XM_024452822.1:c.-786C>G | XP_024308590.1:n.-786C>G | |
| NM_000179.3:c.-50C>G MANE Select | NP_000170.1:n.-50C>G | |
| NM_001281492.2:c.-50C>G | NP_001268421.1:n.-50C>G | |
| NM_001281493.2:c.-786C>G | NP_001268422.1:n.-786C>G |