Revel Score:
ENST00000397707
0.248
ENST00000354181 (MANE Select)
0.248
ENST00000397702
0.248
ENST00000458406
0.248
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012238 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00012632 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34336451G>C , CM000677.2:g.34336451G>C | GRCh38 |
| NC_000015.9:g.34628652G>C , CM000677.1:g.34628652G>C | GRCh37 |
| NC_000015.8:g.32415944G>C | NCBI36 |
| NG_007951.1:g.6614C>G , LRG_270:g.6614C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.230C>G MANE Select | ENSP00000346112.3:p.Pro77Arg | |
| ENST00000675289.1:n.1012C>G | ||
| ENST00000676379.1:c.230C>G | ENSP00000502539.1:p.Pro77Arg | |
| ENST00000354181.7:c.230C>G | ENSP00000346112.3:p.Pro77Arg | |
| ENST00000397702.6:c.53C>G | ENSP00000380814.2:p.Pro18Arg | |
| ENST00000397707.6:c.230C>G | ENSP00000380819.2:p.Pro77Arg | |
| ENST00000458406.6:c.53C>G | ENSP00000387725.2:p.Pro18Arg | |
| ENST00000558589.5:c.203C>G | ENSP00000452776.1:p.Pro68Arg | |
| ENST00000558667.5:c.230C>G | ENSP00000453473.1:p.Pro77Arg | |
| ENST00000559236.5:c.230C>G | ENSP00000452828.1:p.Pro77Arg | |
| ENST00000559484.1:c.53C>G | ENSP00000452857.1:p.Pro18Arg | |
| ENST00000559523.5:c.53C>G | ENSP00000452904.1:p.Pro18Arg | |
| ENST00000559664.5:c.230C>G | ENSP00000453702.1:p.Pro77Arg | |
| ENST00000560611.5:c.230C>G | ENSP00000454168.1:p.Pro77Arg | |
| ENST00000561080.5:c.230C>G | ENSP00000454069.1:p.Pro77Arg | |
| ENST00000561120.5:c.203C>G | ENSP00000452771.1:p.Pro68Arg | |
| NM_001042494.1:c.53C>G | NP_001035959.1:p.Pro18Arg | |
| NM_001042495.1:c.53C>G | NP_001035960.1:p.Pro18Arg | |
| NM_001042496.1:c.203C>G | NP_001035961.1:p.Pro68Arg | |
| NM_001042497.1:c.230C>G | NP_001035962.1:p.Pro77Arg | |
| NM_133647.1:c.230C>G , LRG_270t2:c.230C>G | NP_598408.1:p.Pro77Arg | |
| XM_006720793.2:c.230C>G | XP_006720856.1:p.Pro77Arg | |
| XM_011522267.1:c.230C>G | XP_011520569.1:p.Pro77Arg | |
| XM_011522268.1:c.230C>G | XP_011520570.1:p.Pro77Arg | |
| XM_011522269.1:c.230C>G | XP_011520571.1:p.Pro77Arg | |
| XR_429476.2:n.236C>G | ||
| XR_931960.1:n.236C>G | ||
| XR_931961.1:n.236C>G | ||
| NM_001365088.1:c.230C>G MANE Select | NP_001352017.1:p.Pro77Arg | |
| XM_006720793.4:c.230C>G | XP_006720856.1:p.Pro77Arg | |
| XM_011522269.3:c.230C>G | XP_011520571.1:p.Pro77Arg | |
| XR_931960.3:n.1480C>G | ||
| NM_001042494.2:c.53C>G | NP_001035959.1:p.Pro18Arg | |
| NM_001042495.2:c.53C>G | NP_001035960.1:p.Pro18Arg | |
| NM_001042496.2:c.203C>G | NP_001035961.1:p.Pro68Arg | |
| NM_001042497.2:c.230C>G | NP_001035962.1:p.Pro77Arg | |
| NM_133647.2:c.230C>G | NP_598408.1:p.Pro77Arg |