Revel Score:
ENST00000327367 (MANE Select)
0.995
ENST00000535241
0.995
ENST00000540846
0.995
ENST00000439724
0.995
ENST00000537194
0.995
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67181403T>C , CM000677.2:g.67181403T>C | GRCh38 |
| NC_000015.9:g.67473741T>C , CM000677.1:g.67473741T>C | GRCh37 |
| NC_000015.8:g.65260795T>C | NCBI36 |
| NG_011990.1:g.120547T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558428.6:c.236T>C | ENSP00000454165.2:p.Leu79Pro | |
| ENST00000558739.2:c.506T>C | ENSP00000453684.2:p.Leu169Pro | |
| ENST00000558827.2:c.236T>C | ENSP00000452767.2:p.Leu79Pro | |
| ENST00000559460.6:c.506T>C | ENSP00000453082.2:p.Leu169Pro | |
| ENST00000560424.2:c.821T>C | ENSP00000455540.2:p.Leu274Pro | |
| ENST00000327367.9:c.821T>C MANE Select | ENSP00000332973.4:p.Leu274Pro | |
| ENST00000679624.1:c.506T>C | ENSP00000505445.1:p.Leu169Pro | |
| ENST00000680689.1:n.524T>C | ||
| ENST00000681239.1:c.506T>C | ENSP00000505641.1:p.Leu169Pro | |
| ENST00000327367.8:c.821T>C | ENSP00000332973.4:p.Leu274Pro | |
| ENST00000439724.7:c.689T>C | ENSP00000401133.3:p.Leu230Pro | |
| ENST00000537194.6:c.236T>C | ENSP00000445348.2:p.Leu79Pro | |
| ENST00000540846.6:c.506T>C | ENSP00000437757.2:p.Leu169Pro | |
| ENST00000558428.5:c.236T>C | ENSP00000454165.1:p.Leu79Pro | |
| ENST00000558827.1:c.236T>C | ENSP00000452767.1:p.Leu79Pro | |
| ENST00000558894.5:c.506T>C | ENSP00000458060.1:p.Leu169Pro | |
| ENST00000560402.1:n.282+6819T>C | ||
| NM_001145102.1:c.506T>C | NP_001138574.1:p.Leu169Pro | |
| NM_001145103.1:c.689T>C | NP_001138575.1:p.Leu230Pro | |
| NM_001145104.1:c.236T>C | NP_001138576.1:p.Leu79Pro | |
| NM_005902.3:c.821T>C | NP_005893.1:p.Leu274Pro | |
| XM_011521559.1:c.689T>C | XP_011519861.1:p.Leu230Pro | |
| XM_011521560.1:c.674T>C | XP_011519862.1:p.Leu225Pro | |
| XM_011521559.3:c.689T>C | XP_011519861.1:p.Leu230Pro | |
| NM_005902.4:c.821T>C MANE Select | NP_005893.1:p.Leu274Pro | |
| NM_001145102.2:c.506T>C | NP_001138574.1:p.Leu169Pro | |
| NM_001145103.2:c.689T>C | NP_001138575.1:p.Leu230Pro | |
| NM_001145104.2:c.236T>C | NP_001138576.1:p.Leu79Pro |