Linked Data
ClinVar Variation Id:
245772
dbSNP Id:
rs111356679
ExAC:
3:100467232 C / G
gnomAD v2:
3-100467232-C-G
gnomAD v3:
3-100748388-C-G
gnomAD v4:
3-100748388-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.100748388C>G , CM000665.2:g.100748388C>G | GRCh38 |
| NC_000003.11:g.100467232C>G , CM000665.1:g.100467232C>G | GRCh37 |
| NC_000003.10:g.101949922C>G | NCBI36 |
| NG_027821.1:g.44099C>G | |
| NG_027821.2:g.44099C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240851.9:c.1060C>G MANE Select | ENSP00000240851.4:p.Pro354Ala | |
| ENST00000418917.7:c.*230C>G | ENSP00000397182.3:n.*230C>G | |
| ENST00000463568.6:c.1048C>G | ENSP00000419504.2:p.Pro350Ala | |
| ENST00000487505.6:c.1060C>G | ENSP00000420797.2:p.Pro354Ala | |
| ENST00000490574.6:c.1060C>G | ENSP00000419960.1:p.Pro354Ala | |
| ENST00000615993.2:c.*246C>G | ENSP00000479269.2:n.*246C>G | |
| ENST00000620299.5:c.*246C>G | ENSP00000479981.1:n.*246C>G | |
| ENST00000674615.1:c.1060C>G | ENSP00000502734.1:p.Pro354Ala | |
| ENST00000674645.1:c.1048C>G | ENSP00000501892.1:p.Pro350Ala | |
| ENST00000674699.1:c.*317C>G | ENSP00000502175.1:n.*317C>G | |
| ENST00000674758.1:c.1048C>G | ENSP00000502502.1:p.Pro350Ala | |
| ENST00000674798.1:n.3907C>G | ||
| ENST00000675011.1:c.*355C>G | ENSP00000501745.1:n.*355C>G | |
| ENST00000675047.1:c.1048C>G | ENSP00000502497.1:p.Pro350Ala | |
| ENST00000675243.1:c.1060C>G | ENSP00000502592.1:p.Pro354Ala | |
| ENST00000675246.1:c.1056C>G | ENSP00000501620.1:p.Asn352Lys | |
| ENST00000675420.1:c.1048C>G | ENSP00000502516.1:p.Pro350Ala | |
| ENST00000675499.1:c.1060C>G | ENSP00000502450.1:p.Pro354Ala | |
| ENST00000675543.1:c.*246C>G | ENSP00000502229.1:n.*246C>G | |
| ENST00000675553.1:c.1060C>G | ENSP00000501815.1:p.Pro354Ala | |
| ENST00000675586.1:c.*246C>G | ENSP00000502329.1:n.*246C>G | |
| ENST00000675591.1:c.*617C>G | ENSP00000501641.1:n.*617C>G | |
| ENST00000675692.1:c.1096C>G | ENSP00000502034.1:p.Pro366Ala | |
| ENST00000675890.1:c.*230C>G | ENSP00000502537.1:n.*230C>G | |
| ENST00000675958.1:c.*230C>G | ENSP00000502025.1:n.*230C>G | |
| ENST00000676010.1:n.5288C>G | ||
| ENST00000676054.1:c.*317C>G | ENSP00000502051.1:n.*317C>G | |
| ENST00000676111.1:c.*246C>G | ENSP00000502139.1:n.*246C>G | |
| ENST00000676276.1:c.*294C>G | ENSP00000502372.1:n.*294C>G | |
| ENST00000676308.1:c.*246C>G | ENSP00000502697.1:n.*246C>G | |
| ENST00000676395.1:c.1060C>G | ENSP00000502071.1:p.Pro354Ala | |
| ENST00000676431.1:c.1048C>G | ENSP00000502698.1:p.Pro350Ala | |
| ENST00000240851.8:c.1060C>G | ENSP00000240851.4:p.Pro354Ala | |
| ENST00000418917.6:c.1048C>G | ENSP00000397182.2:p.Pro350Ala | |
| ENST00000476228.5:c.1048C>G | ENSP00000417952.1:p.Pro350Ala | |
| ENST00000481203.1:n.2696C>G | ||
| ENST00000490574.5:c.1060C>G | ENSP00000419960.1:p.Pro354Ala | |
| ENST00000612059.4:c.1047C>G | ENSP00000477562.1:p.Asn349Lys | |
| ENST00000615993.1:c.1101C>G | ENSP00000479269.1:n.1101C>G | |
| NM_001007565.2:c.1060C>G | NP_001007566.1:p.Pro354Ala | |
| NM_001195478.1:c.1060C>G | NP_001182407.1:p.Pro354Ala | |
| NM_001195479.1:c.1048C>G | NP_001182408.1:p.Pro350Ala | |
| NM_006070.5:c.1060C>G | NP_006061.2:p.Pro354Ala | |
| XM_005247066.1:c.1048C>G | XP_005247123.1:p.Pro350Ala | |
| XM_006713472.1:c.1060C>G | XP_006713535.1:p.Pro354Ala | |
| XM_006713473.1:c.1060C>G | XP_006713536.1:p.Pro354Ala | |
| XM_011512334.1:c.1060C>G | XP_011510636.1:p.Pro354Ala | |
| XM_005247066.2:c.1048C>G | XP_005247123.1:p.Pro350Ala | |
| XM_017005527.1:c.1048C>G | XP_016861016.1:p.Pro350Ala | |
| NM_006070.6:c.1060C>G MANE Select | NP_006061.2:p.Pro354Ala | |
| NM_001195478.2:c.1060C>G | NP_001182407.1:p.Pro354Ala | |
| NM_001195479.2:c.1048C>G | NP_001182408.1:p.Pro350Ala |