COSMIC:
COSM3759041 (not active)
Revel Score:
ENST00000263207 (MANE Select)
0.057
ENST00000344269
0.057
ENST00000401994
0.057
ENST00000406522
0.057
ENST00000406259
0.057
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55442169 (AFR)
Genomes Max Group AF
0.54850418 (AFR)
Exomes Max Group AF
0.55763699 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19981583A>G , CM000684.2:g.19981583A>G | GRCh38 |
| NC_000022.10:g.19969106A>G , CM000684.1:g.19969106A>G | GRCh37 |
| NC_000022.9:g.18349106A>G | NCBI36 |
| NG_023326.1:g.40204T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263207.8:c.524T>C MANE Select | ENSP00000263207.3:p.Val175Ala | |
| ENST00000263207.7:c.524T>C | ENSP00000263207.3:p.Val175Ala | |
| ENST00000401994.5:c.335T>C | ENSP00000384341.1:p.Val112Ala | |
| ENST00000406259.1:c.524T>C | ENSP00000385444.1:p.Val175Ala | |
| ENST00000406522.5:c.335T>C | ENSP00000384732.1:p.Val112Ala | |
| ENST00000462319.1:n.395T>C | ||
| ENST00000473551.5:n.522T>C | ||
| ENST00000487793.5:n.432T>C | ||
| ENST00000492625.5:n.430T>C | ||
| NM_001670.2:c.524T>C | NP_001661.1:p.Val175Ala | |
| XM_005261242.1:c.524T>C | XP_005261299.1:p.Val175Ala | |
| XM_005261243.3:c.524T>C | XP_005261300.1:p.Val175Ala | |
| XM_005261244.3:c.524T>C | XP_005261301.1:p.Val175Ala | |
| XM_006724243.1:c.524T>C | XP_006724306.1:p.Val175Ala | |
| XM_006724245.2:c.524T>C | XP_006724308.1:p.Val175Ala | |
| XM_006724246.2:c.278T>C | XP_006724309.1:p.Val93Ala | |
| XM_006724247.2:c.335T>C | XP_006724310.1:p.Val112Ala | |
| XM_006724248.2:c.335T>C | XP_006724311.1:p.Val112Ala | |
| XM_006724249.2:c.524T>C | XP_006724312.1:p.Val175Ala | |
| XM_006724250.2:c.524T>C | XP_006724313.1:p.Val175Ala | |
| XM_011530179.1:c.524T>C | XP_011528481.1:p.Val175Ala | |
| XM_011530180.1:c.524T>C | XP_011528482.1:p.Val175Ala | |
| XM_011530181.1:c.524T>C | XP_011528483.1:p.Val175Ala | |
| XR_937863.1:n.810T>C | ||
| XR_937864.1:n.810T>C | ||
| XM_005261242.3:c.524T>C | XP_005261299.1:p.Val175Ala | |
| XM_005261243.4:c.524T>C | XP_005261300.1:p.Val175Ala | |
| XM_005261244.4:c.524T>C | XP_005261301.1:p.Val175Ala | |
| XM_006724243.3:c.524T>C | XP_006724306.1:p.Val175Ala | |
| XM_006724245.3:c.524T>C | XP_006724308.1:p.Val175Ala | |
| XM_006724246.4:c.278T>C | XP_006724309.1:p.Val93Ala | |
| XM_006724247.4:c.335T>C | XP_006724310.1:p.Val112Ala | |
| XM_006724248.4:c.335T>C | XP_006724311.1:p.Val112Ala | |
| XM_006724249.3:c.524T>C | XP_006724312.1:p.Val175Ala | |
| XM_006724250.3:c.524T>C | XP_006724313.1:p.Val175Ala | |
| XM_011530179.3:c.524T>C | XP_011528481.1:p.Val175Ala | |
| XM_024452249.1:c.278T>C | XP_024308017.1:p.Val93Ala | |
| XR_937863.2:n.810T>C | ||
| NM_001670.3:c.524T>C MANE Select | NP_001661.1:p.Val175Ala |