Revel Score:
ENST00000241453 (MANE Select)
0.564
ENST00000380982
0.564
ENST00000537084
0.564
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28027224A>G , CM000675.2:g.28027224A>G | GRCh38 |
| NC_000013.10:g.28601361A>G , CM000675.1:g.28601361A>G | GRCh37 |
| NC_000013.9:g.27499361A>G | NCBI36 |
| NG_007066.1:g.78345T>C , LRG_457:g.78345T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2071T>C MANE Select | ENSP00000241453.7:p.Phe691Leu | |
| ENST00000241453.11:c.2071T>C | ENSP00000241453.7:p.Phe691Leu | |
| ENST00000380987.2:c.2071T>C | ENSP00000370374.2:p.Phe691Leu | |
| NM_004119.2:c.2071T>C , LRG_457t1:c.2071T>C | NP_004110.2:p.Phe691Leu | |
| NR_130706.1:n.2153T>C | ||
| XM_011535015.1:c.2014T>C | XP_011533317.1:p.Phe672Leu | |
| XM_011535016.1:c.1546T>C | XP_011533318.1:p.Phe516Leu | |
| XM_011535017.1:c.1546T>C | XP_011533319.1:p.Phe516Leu | |
| XM_011535018.1:c.1546T>C | XP_011533320.1:p.Phe516Leu | |
| XM_011535015.2:c.2014T>C | XP_011533317.1:p.Phe672Leu | |
| XM_011535017.2:c.1546T>C | XP_011533319.1:p.Phe516Leu | |
| XM_011535018.2:c.1546T>C | XP_011533320.1:p.Phe516Leu | |
| XM_017020486.1:c.1855T>C | XP_016875975.1:p.Phe619Leu | |
| XM_017020487.1:c.1546T>C | XP_016875976.1:p.Phe516Leu | |
| XM_017020488.1:c.1192T>C | XP_016875977.1:p.Phe398Leu | |
| XM_017020489.1:c.1174T>C | XP_016875978.1:p.Phe392Leu | |
| NM_004119.3:c.2071T>C MANE Select | NP_004110.2:p.Phe691Leu | |
| NR_130706.2:n.2137T>C |