Linked Data
ClinVar Variation Id:
137666
dbSNP Id:
rs3743715
ExAC:
16:66583994 G / C
gnomAD v2:
16-66583994-G-C
gnomAD v3:
16-66550091-G-C
gnomAD v4:
16-66550091-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66550091G>C , CM000678.2:g.66550091G>C | GRCh38 |
| NC_000016.9:g.66583994G>C , CM000678.1:g.66583994G>C | GRCh37 |
| NC_000016.8:g.65141495G>C | NCBI36 |
| NG_016862.1:g.5322C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299697.12:c.31+162C>G | ENSP00000299697.9:n.31+162C>G | |
| ENST00000417693.8:c.-30C>G | ENSP00000407469.5:n.-30C>G | |
| ENST00000451102.7:c.31+162C>G | ENSP00000414334.4:n.31+162C>G | |
| ENST00000544898.6:c.-30C>G MANE Select | ENSP00000440898.2:n.-30C>G | |
| ENST00000567357.6:c.-30C>G | ENSP00000457959.2:n.-30C>G | |
| ENST00000569718.6:c.31+162C>G | ENSP00000464313.2:n.31+162C>G | |
| ENST00000620035.5:c.-30C>G | ENSP00000483833.2:n.-30C>G | |
| ENST00000677420.1:c.-1195C>G | ENSP00000504648.1:n.-1195C>G | |
| ENST00000678015.1:c.-167-1082C>G | ENSP00000502959.1:n.-167-1082C>G | |
| ENST00000678297.1:c.-92-1082C>G | ENSP00000503472.1:n.-92-1082C>G | |
| ENST00000678314.1:c.-61+1449C>G | ENSP00000504438.1:n.-61+1449C>G | |
| ENST00000679327.1:n.14C>G | ||
| ENST00000299697.11:c.-30C>G | ENSP00000299697.8:n.-30C>G | |
| ENST00000417693.7:c.97C>G | ENSP00000407469.4:p.Pro33Ala | |
| ENST00000451102.6:c.97C>G | ENSP00000414334.3:p.Pro33Ala | |
| ENST00000527284.5:c.31+162C>G | ENSP00000435312.1:n.31+162C>G | |
| ENST00000544898.5:c.-30C>G | ENSP00000440898.2:n.-30C>G | |
| ENST00000545043.6:c.-30C>G | ENSP00000438143.2:n.-30C>G | |
| ENST00000562484.2:c.-167-1082C>G | ENSP00000463326.1:n.-167-1082C>G | |
| ENST00000563478.5:c.-167-1082C>G | ENSP00000462341.1:n.-167-1082C>G | |
| ENST00000564917.5:c.-30C>G | ENSP00000455187.1:n.-30C>G | |
| ENST00000567357.5:c.97C>G | ENSP00000457959.1:p.Pro33Ala | |
| ENST00000569718.5:c.18+162C>G | ||
| ENST00000620035.4:c.-30C>G | ENSP00000483833.1:n.-30C>G | |
| NM_001172643.1:c.31+162C>G | NP_001166114.1:n.31+162C>G | |
| NM_001172644.1:c.-30C>G | NP_001166115.1:n.-30C>G | |
| NM_001172645.1:c.-30C>G | NP_001166116.1:n.-30C>G | |
| NM_001271934.1:c.-272C>G | NP_001258863.1:n.-272C>G | |
| NM_001271935.1:c.31+162C>G | NP_001258864.1:n.31+162C>G | |
| NM_004614.4:c.-30C>G | NP_004605.4:n.-30C>G | |
| NR_073520.1:n.322C>G | ||
| NM_001172644.2:c.-30C>G | NP_001166115.1:n.-30C>G | |
| NM_001271934.2:c.-272C>G | NP_001258863.1:n.-272C>G | |
| NM_001272050.2:c.-682C>G | NP_001258979.1:n.-682C>G | |
| NM_004614.5:c.-30C>G MANE Select | NP_004605.4:n.-30C>G | |
| NR_073520.2:n.32C>G | ||
| NM_001172645.2:c.-30C>G | NP_001166116.1:n.-30C>G |