Revel Score:
ENST00000381178
0.618
ENST00000381175
0.618
ENST00000352909 (MANE Select)
0.618
ENST00000333684
0.618
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2167896A>G , CM000673.2:g.2167896A>G | GRCh38 |
| NC_000011.9:g.2189126A>G , CM000673.1:g.2189126A>G | GRCh37 |
| NC_000011.8:g.2145702A>G | NCBI36 |
| NG_008128.1:g.8910T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.614T>C MANE Select | ENSP00000325951.4:p.Leu205Pro | |
| ENST00000324155.8:c.*303T>C | ENSP00000325831.3:n.*303T>C | |
| ENST00000333684.9:c.614T>C | ENSP00000328814.6:p.Leu205Pro | |
| ENST00000352909.7:c.614T>C | ENSP00000325951.3:p.Leu205Pro | |
| ENST00000381168.7:c.*303T>C | ENSP00000370560.3:n.*303T>C | |
| ENST00000381175.5:c.695T>C | ENSP00000370567.1:p.Leu232Pro | |
| ENST00000381178.5:c.707T>C | ENSP00000370571.1:p.Leu236Pro | |
| ENST00000412076.1:c.54T>C | ||
| ENST00000416223.5:c.54T>C | ||
| ENST00000469226.1:n.363T>C | ||
| NM_000360.3:c.614T>C | NP_000351.2:p.Leu205Pro | |
| NM_199292.2:c.707T>C | NP_954986.2:p.Leu236Pro | |
| NM_199293.2:c.695T>C | NP_954987.2:p.Leu232Pro | |
| XM_011520335.1:c.626T>C | XP_011518637.1:p.Leu209Pro | |
| XM_011520335.2:c.626T>C | XP_011518637.1:p.Leu209Pro | |
| NM_000360.4:c.614T>C MANE Select | NP_000351.2:p.Leu205Pro | |
| NM_199292.3:c.707T>C | NP_954986.2:p.Leu236Pro | |
| NM_199293.3:c.695T>C | NP_954987.2:p.Leu232Pro |