Revel Score:
ENST00000437932
0.036
ENST00000317968 (MANE Select)
0.036
ENST00000503974
0.036
ENST00000542407
0.036
ENST00000514743
0.036
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.94618116G>C , CM000666.2:g.94618116G>C | GRCh38 |
| NC_000004.11:g.95539267G>C , CM000666.1:g.95539267G>C | GRCh37 |
| NC_000004.10:g.95758290G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317968.9:c.1033G>C MANE Select | ENSP00000321746.4:p.Ala345Pro | |
| ENST00000317968.8:c.1033G>C | ENSP00000321746.4:p.Ala345Pro | |
| ENST00000380176.7:n.926G>C | ||
| ENST00000437932.5:c.58G>C | ENSP00000398469.2:p.Ala20Pro | |
| ENST00000503974.5:c.724G>C | ENSP00000424297.1:p.Ala242Pro | |
| ENST00000506632.2:c.261G>C | ||
| ENST00000509357.5:c.518G>C | ENSP00000422833.1:n.518G>C | |
| ENST00000511586.5:n.472G>C | ||
| ENST00000514743.5:c.1120G>C | ENSP00000424360.1:p.Ala374Pro | |
| ENST00000542407.5:c.706G>C | ENSP00000442187.2:p.Ala236Pro | |
| ENST00000615540.4:c.1120G>C | ENSP00000480359.1:p.Ala374Pro | |
| ENST00000627587.2:c.*761G>C | ENSP00000486938.1:n.*761G>C | |
| XM_005262693.3:c.1447G>C | XP_005262750.1:p.Ala483Pro | |
| XM_005262695.3:c.1429G>C | XP_005262752.1:p.Ala477Pro | |
| XM_005262696.3:c.1102G>C | XP_005262753.1:p.Ala368Pro | |
| XM_005262698.3:c.724G>C | XP_005262755.1:p.Ala242Pro | |
| XM_006714066.2:c.1462G>C | XP_006714129.1:p.Ala488Pro | |
| XM_006714067.2:c.1462G>C | XP_006714130.1:p.Ala488Pro | |
| XM_006714068.2:c.1135G>C | XP_006714131.1:p.Ala379Pro | |
| XM_006714069.2:c.1066G>C | XP_006714132.1:p.Ala356Pro | |
| XM_006714070.2:c.1060G>C | XP_006714133.1:p.Ala354Pro | |
| XM_011531543.1:c.1045G>C | XP_011529845.1:p.Ala349Pro | |
| XM_005262693.5:c.1447G>C | XP_005262750.1:p.Ala483Pro | |
| XM_005262695.5:c.1429G>C | XP_005262752.1:p.Ala477Pro | |
| XM_005262696.4:c.1102G>C | XP_005262753.1:p.Ala368Pro | |
| XM_005262698.4:c.724G>C | XP_005262755.1:p.Ala242Pro | |
| XM_006714066.4:c.1462G>C | XP_006714129.1:p.Ala488Pro | |
| XM_006714068.3:c.1135G>C | XP_006714131.1:p.Ala379Pro | |
| XM_006714069.4:c.1066G>C | XP_006714132.1:p.Ala356Pro | |
| XM_006714070.3:c.1060G>C | XP_006714133.1:p.Ala354Pro | |
| XM_011531543.3:c.1045G>C | XP_011529845.1:p.Ala349Pro | |
| XM_017007657.2:c.1051G>C | XP_016863146.1:p.Ala351Pro | |
| XM_017007658.1:c.739G>C | XP_016863147.1:p.Ala247Pro | |
| NM_001011513.4:c.706G>C | NP_001011513.4:p.Ala236Pro | |
| NM_001256427.2:c.724G>C | NP_001243356.2:p.Ala242Pro | |
| NM_001256428.2:c.667G>C | NP_001243357.2:p.Ala223Pro | |
| NM_006457.5:c.1033G>C MANE Select | NP_006448.5:p.Ala345Pro | |
| NM_001256425.2:c.58G>C | NP_001243354.2:p.Ala20Pro | |
| NM_001256426.2:c.1120G>C | NP_001243355.2:p.Ala374Pro |