Linked Data
ClinVar Variation Id:
470050
dbSNP Id:
rs1229142303
gnomAD v2:
5-112177799-C-T
gnomAD v3:
5-112842102-C-T
gnomAD v4:
5-112842102-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842102C>T , CM000667.2:g.112842102C>T | GRCh38 |
| NC_000005.9:g.112177799C>T , CM000667.1:g.112177799C>T | GRCh37 |
| NC_000005.8:g.112205698C>T | NCBI36 |
| NG_008481.4:g.154582C>T , LRG_130:g.154582C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6562C>T | ENSP00000473355.2:p.Pro2188Ser | |
| ENST00000505350.2:c.*6514C>T | ENSP00000481752.1:n.*6514C>T | |
| ENST00000507379.6:c.6454C>T | ENSP00000423224.2:p.Pro2152Ser | |
| ENST00000509732.6:c.6508C>T | ENSP00000426541.2:p.Pro2170Ser | |
| ENST00000512211.7:c.6508C>T | ENSP00000423828.3:p.Pro2170Ser | |
| ENST00000257430.9:c.6508C>T MANE Select | ENSP00000257430.4:p.Pro2170Ser | |
| ENST00000257430.8:c.6508C>T | ENSP00000257430.4:p.Pro2170Ser | |
| ENST00000508376.6:c.6508C>T | ENSP00000427089.2:p.Pro2170Ser | |
| ENST00000508624.5:c.*5830C>T | ENSP00000424265.1:n.*5830C>T | |
| ENST00000520401.1:c.230+13130C>T | ||
| NM_000038.5:c.6508C>T | NP_000029.2:p.Pro2170Ser | |
| NM_001127510.2:c.6508C>T | NP_001120982.1:p.Pro2170Ser | |
| NM_001127511.2:c.6454C>T | NP_001120983.2:p.Pro2152Ser | |
| NM_001354895.1:c.6508C>T | NP_001341824.1:p.Pro2170Ser | |
| NM_001354896.1:c.6562C>T | NP_001341825.1:p.Pro2188Ser | |
| NM_001354897.1:c.6538C>T | NP_001341826.1:p.Pro2180Ser | |
| NM_001354898.1:c.6433C>T | NP_001341827.1:p.Pro2145Ser | |
| NM_001354899.1:c.6424C>T | NP_001341828.1:p.Pro2142Ser | |
| NM_001354900.1:c.6385C>T | NP_001341829.1:p.Pro2129Ser | |
| NM_001354901.1:c.6331C>T | NP_001341830.1:p.Pro2111Ser | |
| NM_001354902.1:c.6235C>T | NP_001341831.1:p.Pro2079Ser | |
| NM_001354903.1:c.6205C>T | NP_001341832.1:p.Pro2069Ser | |
| NM_001354904.1:c.6130C>T | NP_001341833.1:p.Pro2044Ser | |
| NM_001354905.1:c.6028C>T | NP_001341834.1:p.Pro2010Ser | |
| NM_001354906.1:c.5659C>T | NP_001341835.1:p.Pro1887Ser | |
| NM_000038.6:c.6508C>T MANE Select | NP_000029.2:p.Pro2170Ser | |
| NM_001127510.3:c.6508C>T | NP_001120982.1:p.Pro2170Ser | |
| NM_001127511.3:c.6454C>T | NP_001120983.2:p.Pro2152Ser | |
| NM_001354895.2:c.6508C>T | NP_001341824.1:p.Pro2170Ser | |
| NM_001354896.2:c.6562C>T | NP_001341825.1:p.Pro2188Ser | |
| NM_001354897.2:c.6538C>T | NP_001341826.1:p.Pro2180Ser | |
| NM_001354898.2:c.6433C>T | NP_001341827.1:p.Pro2145Ser | |
| NM_001354899.2:c.6424C>T | NP_001341828.1:p.Pro2142Ser | |
| NM_001354900.2:c.6385C>T | NP_001341829.1:p.Pro2129Ser | |
| NM_001354901.2:c.6331C>T | NP_001341830.1:p.Pro2111Ser | |
| NM_001354902.2:c.6235C>T | NP_001341831.1:p.Pro2079Ser | |
| NM_001354903.2:c.6205C>T | NP_001341832.1:p.Pro2069Ser | |
| NM_001354904.2:c.6130C>T | NP_001341833.1:p.Pro2044Ser | |
| NM_001354905.2:c.6028C>T | NP_001341834.1:p.Pro2010Ser | |
| NM_001354906.2:c.5659C>T | NP_001341835.1:p.Pro1887Ser |