COSMIC:
COSM149325 (not active)
Revel Score:
ENST00000256509 (MANE Select)
0.070
ENST00000397491
0.070
ENST00000427688
0.070
ENST00000421198
0.070
ENST00000435603
0.070
ENST00000449294
0.070
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51410166 (AFR)
Genomes Max Group AF
0.50647103 (AFR)
Exomes Max Group AF
0.51968104 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.319825C>T , CM000665.2:g.319825C>T | GRCh38 |
| NC_000003.11:g.361508C>T , CM000665.1:g.361508C>T | GRCh37 |
| NC_000003.10:g.336508C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256509.7:c.49C>T MANE Select | ENSP00000256509.2:p.Leu17Phe | |
| ENST00000256509.6:c.49C>T | ENSP00000256509.2:p.Leu17Phe | |
| ENST00000397491.6:c.49C>T | ENSP00000380628.2:p.Leu17Phe | |
| ENST00000421198.5:c.49C>T | ENSP00000413628.1:p.Leu17Phe | |
| ENST00000427688.5:c.49C>T | ENSP00000403311.1:p.Leu17Phe | |
| ENST00000435603.5:c.49C>T | ENSP00000397445.1:p.Leu17Phe | |
| ENST00000449294.6:c.49C>T | ENSP00000390440.2:p.Leu17Phe | |
| ENST00000453040.5:c.*387C>T | ENSP00000413109.1:n.*387C>T | |
| ENST00000461289.2:n.22C>T | ||
| ENST00000620033.4:c.49C>T | ENSP00000483512.1:p.Leu17Phe | |
| NM_001253387.1:c.49C>T | NP_001240316.1:p.Leu17Phe | |
| NM_001253388.1:c.49C>T | NP_001240317.1:p.Leu17Phe | |
| NM_006614.3:c.49C>T | NP_006605.2:p.Leu17Phe | |
| XM_006712938.1:c.49C>T | XP_006713001.1:p.Leu17Phe | |
| XM_006712939.2:c.49C>T | XP_006713002.1:p.Leu17Phe | |
| XM_006712940.2:c.49C>T | XP_006713003.1:p.Leu17Phe | |
| XM_011533292.1:c.49C>T | XP_011531594.1:p.Leu17Phe | |
| XM_011533293.1:c.49C>T | XP_011531595.1:p.Leu17Phe | |
| XM_011533294.1:c.49C>T | XP_011531596.1:p.Leu17Phe | |
| XM_011533295.1:c.49C>T | XP_011531597.1:p.Leu17Phe | |
| XM_011533296.1:c.49C>T | XP_011531598.1:p.Leu17Phe | |
| XM_011533297.1:c.49C>T | XP_011531599.1:p.Leu17Phe | |
| XM_006712939.3:c.49C>T | XP_006713002.1:p.Leu17Phe | |
| XM_006712940.3:c.49C>T | XP_006713003.1:p.Leu17Phe | |
| XM_017005566.1:c.49C>T | XP_016861055.1:p.Leu17Phe | |
| XM_017005567.1:c.49C>T | XP_016861056.1:p.Leu17Phe | |
| XM_017005568.1:c.49C>T | XP_016861057.1:p.Leu17Phe | |
| XM_017005569.1:c.49C>T | XP_016861058.1:p.Leu17Phe | |
| XM_017005570.1:c.49C>T | XP_016861059.1:p.Leu17Phe | |
| XM_017005571.1:c.49C>T | XP_016861060.1:p.Leu17Phe | |
| XM_017005572.1:c.49C>T | XP_016861061.1:p.Leu17Phe | |
| XM_017005573.1:c.49C>T | XP_016861062.1:p.Leu17Phe | |
| NM_006614.4:c.49C>T MANE Select | NP_006605.2:p.Leu17Phe | |
| NM_001253387.2:c.49C>T | NP_001240316.1:p.Leu17Phe |