Linked Data
ClinVar Variation Id:
2774891
ClinVar RCV Id:
RCV003586071
dbSNP Id:
rs587779785
COSMIC:
COSM4169485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838664C>G , CM000667.2:g.112838664C>G | GRCh38 |
| NC_000005.9:g.112174361C>G , CM000667.1:g.112174361C>G | GRCh37 |
| NC_000005.8:g.112202260C>G | NCBI36 |
| NG_008481.4:g.151144C>G , LRG_130:g.151144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2735C>G | ENSP00000484935.2:n.2735C>G | |
| ENST00000504915.3:c.3124C>G | ENSP00000473355.2:p.Pro1042Ala | |
| ENST00000505350.2:c.*3076C>G | ENSP00000481752.1:n.*3076C>G | |
| ENST00000507379.6:c.3016C>G | ENSP00000423224.2:p.Pro1006Ala | |
| ENST00000509732.6:c.3070C>G | ENSP00000426541.2:p.Pro1024Ala | |
| ENST00000512211.7:c.3070C>G | ENSP00000423828.3:p.Pro1024Ala | |
| ENST00000257430.9:c.3070C>G MANE Select | ENSP00000257430.4:p.Pro1024Ala | |
| ENST00000257430.8:c.3070C>G | ENSP00000257430.4:p.Pro1024Ala | |
| ENST00000502371.2:c.1423C>G | ||
| ENST00000507379.5:c.3016C>G | ENSP00000423224.1:p.Pro1006Ala | |
| ENST00000508376.6:c.3070C>G | ENSP00000427089.2:p.Pro1024Ala | |
| ENST00000508624.5:c.*2392C>G | ENSP00000424265.1:n.*2392C>G | |
| ENST00000512211.6:c.3070C>G | ENSP00000423828.2:p.Pro1024Ala | |
| ENST00000520401.1:c.230+9692C>G | ||
| NM_000038.5:c.3070C>G | NP_000029.2:p.Pro1024Ala | |
| NM_001127510.2:c.3070C>G | NP_001120982.1:p.Pro1024Ala | |
| NM_001127511.2:c.3016C>G | NP_001120983.2:p.Pro1006Ala | |
| NM_001354895.1:c.3070C>G | NP_001341824.1:p.Pro1024Ala | |
| NM_001354896.1:c.3124C>G | NP_001341825.1:p.Pro1042Ala | |
| NM_001354897.1:c.3100C>G | NP_001341826.1:p.Pro1034Ala | |
| NM_001354898.1:c.2995C>G | NP_001341827.1:p.Pro999Ala | |
| NM_001354899.1:c.2986C>G | NP_001341828.1:p.Pro996Ala | |
| NM_001354900.1:c.2947C>G | NP_001341829.1:p.Pro983Ala | |
| NM_001354901.1:c.2893C>G | NP_001341830.1:p.Pro965Ala | |
| NM_001354902.1:c.2797C>G | NP_001341831.1:p.Pro933Ala | |
| NM_001354903.1:c.2767C>G | NP_001341832.1:p.Pro923Ala | |
| NM_001354904.1:c.2692C>G | NP_001341833.1:p.Pro898Ala | |
| NM_001354905.1:c.2590C>G | NP_001341834.1:p.Pro864Ala | |
| NM_001354906.1:c.2221C>G | NP_001341835.1:p.Pro741Ala | |
| NM_000038.6:c.3070C>G MANE Select | NP_000029.2:p.Pro1024Ala | |
| NM_001127510.3:c.3070C>G | NP_001120982.1:p.Pro1024Ala | |
| NM_001127511.3:c.3016C>G | NP_001120983.2:p.Pro1006Ala | |
| NM_001354895.2:c.3070C>G | NP_001341824.1:p.Pro1024Ala | |
| NM_001354896.2:c.3124C>G | NP_001341825.1:p.Pro1042Ala | |
| NM_001354897.2:c.3100C>G | NP_001341826.1:p.Pro1034Ala | |
| NM_001354898.2:c.2995C>G | NP_001341827.1:p.Pro999Ala | |
| NM_001354899.2:c.2986C>G | NP_001341828.1:p.Pro996Ala | |
| NM_001354900.2:c.2947C>G | NP_001341829.1:p.Pro983Ala | |
| NM_001354901.2:c.2893C>G | NP_001341830.1:p.Pro965Ala | |
| NM_001354902.2:c.2797C>G | NP_001341831.1:p.Pro933Ala | |
| NM_001354903.2:c.2767C>G | NP_001341832.1:p.Pro923Ala | |
| NM_001354904.2:c.2692C>G | NP_001341833.1:p.Pro898Ala | |
| NM_001354905.2:c.2590C>G | NP_001341834.1:p.Pro864Ala | |
| NM_001354906.2:c.2221C>G | NP_001341835.1:p.Pro741Ala |