Revel Score:
ENST00000220420 (MANE Select)
0.870
ENST00000349114
0.870
ENST00000396996
0.870
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43260468A>G , CM000677.2:g.43260468A>G | GRCh38 |
| NC_000015.9:g.43552666A>G , CM000677.1:g.43552666A>G | GRCh37 |
| NC_000015.8:g.41339958A>G | NCBI36 |
| NG_016124.1:g.11390T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220420.10:c.122T>C MANE Select | ENSP00000220420.5:p.Leu41Pro | |
| ENST00000220420.9:c.122T>C | ENSP00000220420.5:p.Leu41Pro | |
| ENST00000349114.8:c.122T>C | ENSP00000220419.8:p.Leu41Pro | |
| ENST00000610827.4:c.119T>C | ENSP00000479732.1:p.Leu40Pro | |
| ENST00000611276.4:c.119T>C | ENSP00000482542.1:p.Leu40Pro | |
| ENST00000622115.1:c.125T>C | ENSP00000479638.1:p.Leu42Pro | |
| NM_004245.3:c.122T>C | NP_004236.1:p.Leu41Pro | |
| NM_201631.3:c.122T>C | NP_963925.2:p.Leu41Pro | |
| XM_011522229.1:c.122T>C | XP_011520531.1:p.Leu41Pro | |
| XR_931948.1:n.296T>C | ||
| NM_004245.4:c.122T>C | NP_004236.1:p.Leu41Pro | |
| NM_201631.4:c.122T>C MANE Select | NP_963925.2:p.Leu41Pro |