Revel Score:
ENST00000346085
0.215
ENST00000350026
0.215
ENST00000367148
0.215
ENST00000275248
0.215
ENST00000414678
0.215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157207547T>C , CM000668.2:g.157207547T>C | GRCh38 |
| NC_000006.11:g.157528681T>C , CM000668.1:g.157528681T>C | GRCh37 |
| NC_000006.10:g.157570373T>C | NCBI36 |
| NG_032093.1:g.434618T>C | |
| NG_032093.2:g.434618T>C | |
| NG_066624.1:g.436522T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.6616T>C | ENSP00000055163.8:p.Ser2206Pro | |
| ENST00000414678.8:c.6685T>C | ENSP00000412835.3:p.Ser2229Pro | |
| ENST00000637015.2:c.6904T>C | ENSP00000489729.2:p.Ser2302Pro | |
| ENST00000346085.10:c.6655T>C | ENSP00000344546.5:p.Ser2219Pro | |
| ENST00000350026.10:c.6367T>C | ENSP00000055163.7:p.Ser2123Pro | |
| ENST00000414678.7:c.4933T>C | ENSP00000412835.2:p.Ser1645Pro | |
| ENST00000635849.1:c.4096T>C | ENSP00000490948.1:p.Ser1366Pro | |
| ENST00000635928.1:c.875+56T>C | ENSP00000489717.1:n.875+56T>C | |
| ENST00000635957.1:c.3727T>C | ENSP00000490385.1:p.Ser1243Pro | |
| ENST00000636227.1:n.5238T>C | ||
| ENST00000636254.1:n.2695T>C | ||
| ENST00000636930.2:c.6775T>C MANE Select | ENSP00000490491.2:p.Ser2259Pro | |
| ENST00000636940.1:n.4772T>C | ||
| ENST00000637015.1:c.4143T>C | ||
| ENST00000637568.1:c.4057T>C | ||
| ENST00000637741.1:n.3441T>C | ||
| ENST00000637810.1:c.4117T>C | ENSP00000489636.1:p.Ser1373Pro | |
| ENST00000637904.1:c.4276T>C | ENSP00000490550.1:p.Ser1426Pro | |
| ENST00000637933.1:n.3890T>C | ||
| ENST00000647938.1:c.6406T>C | ENSP00000498155.1:p.Ser2136Pro | |
| ENST00000346085.9:c.6406T>C | ENSP00000344546.4:p.Ser2136Pro | |
| ENST00000350026.9:c.6367T>C | ENSP00000055163.7:p.Ser2123Pro | |
| ENST00000414678.6:c.4933T>C | ENSP00000412835.2:p.Ser1645Pro | |
| NM_017519.2:c.6367T>C | NP_059989.2:p.Ser2123Pro | |
| NM_020732.3:c.6406T>C | NP_065783.3:p.Ser2136Pro | |
| XM_005267069.3:c.6526T>C | XP_005267126.2:p.Ser2176Pro | |
| XM_011535984.1:c.5605T>C | XP_011534286.1:p.Ser1869Pro | |
| XM_011535985.1:c.5425T>C | XP_011534287.1:p.Ser1809Pro | |
| XM_011535986.1:c.5185T>C | XP_011534288.1:p.Ser1729Pro | |
| XM_011535987.1:c.4804T>C | XP_011534289.1:p.Ser1602Pro | |
| XM_011535988.1:c.3667T>C | XP_011534290.1:p.Ser1223Pro | |
| NM_001346813.1:c.6526T>C | NP_001333742.1:p.Ser2176Pro | |
| NM_001363725.1:c.4276T>C | NP_001350654.1:p.Ser1426Pro | |
| XM_011535984.2:c.6736T>C | XP_011534286.2:p.Ser2246Pro | |
| XM_011535988.3:c.3667T>C | XP_011534290.1:p.Ser1223Pro | |
| XM_017011103.2:c.6637T>C | XP_016866592.1:p.Ser2213Pro | |
| XM_017011104.1:c.6607T>C | XP_016866593.1:p.Ser2203Pro | |
| XM_017011105.2:c.6577T>C | XP_016866594.1:p.Ser2193Pro | |
| XM_017011106.2:c.6448T>C | XP_016866595.1:p.Ser2150Pro | |
| XM_017011107.2:c.6427T>C | XP_016866596.1:p.Ser2143Pro | |
| XR_002956289.1:n.6722T>C | ||
| NM_001363725.2:c.4276T>C | NP_001350654.1:p.Ser1426Pro | |
| NM_001371656.1:c.6655T>C | NP_001358585.1:p.Ser2219Pro | |
| NM_001374820.1:c.6655T>C | NP_001361749.1:p.Ser2219Pro | |
| NM_001374828.1:c.6775T>C MANE Select | NP_001361757.1:p.Ser2259Pro | |
| NM_017519.3:c.6616T>C | NP_059989.3:p.Ser2206Pro |