COSMIC:
COSM5019621 (not active)
Revel Score:
ENST00000381298 (MANE Select)
0.015
ENST00000336909
0.015
ENST00000381294
0.015
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32440736 (AFR)
Genomes Max Group AF
0.32004173 (AFR)
Exomes Max Group AF
0.32666545 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55956103G>C , CM000667.2:g.55956103G>C | GRCh38 |
| NC_000005.9:g.55251931G>C , CM000667.1:g.55251931G>C | GRCh37 |
| NC_000005.8:g.55287688G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381294.8:c.1189C>G | ENSP00000370694.3:p.Leu397Val | |
| ENST00000506241.2:n.1498C>G | ||
| ENST00000577363.2:c.*594C>G | ENSP00000513861.1:n.*594C>G | |
| ENST00000698638.1:c.286C>G | ENSP00000513851.1:p.Leu96Val | |
| ENST00000698639.1:c.1189C>G | ENSP00000513852.1:p.Leu397Val | |
| ENST00000698640.1:c.655C>G | ENSP00000513853.1:n.655C>G | |
| ENST00000698641.1:c.*594C>G | ENSP00000513854.1:n.*594C>G | |
| ENST00000698642.1:c.*640C>G | ENSP00000513855.1:n.*640C>G | |
| ENST00000698643.1:c.*511C>G | ENSP00000513856.1:n.*511C>G | |
| ENST00000698644.1:c.979C>G | ENSP00000513857.1:p.Leu327Val | |
| ENST00000698645.1:c.1189C>G | ENSP00000513858.1:p.Leu397Val | |
| ENST00000698646.1:c.1189C>G | ENSP00000513859.1:p.Leu397Val | |
| ENST00000698647.1:c.*808C>G | ENSP00000513860.1:n.*808C>G | |
| ENST00000698648.1:c.*594C>G | ENSP00000513862.1:n.*594C>G | |
| ENST00000381298.7:c.1189C>G MANE Select | ENSP00000370698.2:p.Leu397Val | |
| ENST00000651614.1:c.1189C>G | ENSP00000498224.1:p.Leu397Val | |
| ENST00000336909.9:c.1189C>G | ENSP00000338799.5:p.Leu397Val | |
| ENST00000381286.7:c.65-13352C>G | ENSP00000370686.3:n.65-13352C>G | |
| ENST00000381287.8:c.*116C>G | ENSP00000370687.4:n.*116C>G | |
| ENST00000381293.6:c.475+4299C>G | ENSP00000370693.2:n.475+4299C>G | |
| ENST00000381294.7:c.1189C>G | ENSP00000370694.3:p.Leu397Val | |
| ENST00000381298.6:c.1189C>G | ENSP00000370698.2:p.Leu397Val | |
| ENST00000502326.7:c.1189C>G | ENSP00000462158.1:p.Leu397Val | |
| ENST00000503773.6:c.*233C>G | ENSP00000426224.2:n.*233C>G | |
| ENST00000506241.1:n.295C>G | ||
| ENST00000522633.2:c.*116C>G | ENSP00000435399.1:n.*116C>G | |
| NM_001190981.1:c.1189C>G | NP_001177910.1:p.Leu397Val | |
| NM_002184.3:c.1189C>G | NP_002175.2:p.Leu397Val | |
| NM_175767.2:c.*116C>G | NP_786943.1:n.*116C>G | |
| NR_120480.1:n.1548C>G | ||
| XM_011543376.1:c.1189C>G | XP_011541678.1:p.Leu397Val | |
| NM_001364275.1:c.1189C>G | NP_001351204.1:p.Leu397Val | |
| NM_001364276.1:c.979C>G | NP_001351205.1:p.Leu327Val | |
| NM_001364277.1:c.322C>G | NP_001351206.1:p.Leu108Val | |
| NM_001364278.1:c.286C>G | NP_001351207.1:p.Leu96Val | |
| NM_001364279.1:c.193C>G | NP_001351208.1:p.Leu65Val | |
| NR_157112.1:n.1472C>G | ||
| NM_002184.4:c.1189C>G MANE Select | NP_002175.2:p.Leu397Val | |
| NM_001190981.2:c.1189C>G | NP_001177910.1:p.Leu397Val | |
| NM_001364275.2:c.1189C>G | NP_001351204.1:p.Leu397Val | |
| NM_001364276.2:c.979C>G | NP_001351205.1:p.Leu327Val | |
| NM_001364277.2:c.322C>G | NP_001351206.1:p.Leu108Val | |
| NM_001364278.2:c.286C>G | NP_001351207.1:p.Leu96Val | |
| NM_001364279.2:c.193C>G | NP_001351208.1:p.Leu65Val | |
| NM_175767.3:c.*116C>G | NP_786943.1:n.*116C>G | |
| NR_120480.2:n.1518C>G | ||
| NR_157112.2:n.1472C>G |