COSMIC:
COSM5020029 (not active)
COSM5020030 (not active)
Revel Score:
ENST00000262813
0.052
ENST00000338797
0.052
ENST00000321949 (MANE Select)
0.052
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09595698 (NFE)
Genomes Max Group AF
0.09506127 (NFE)
Exomes Max Group AF
0.09590701 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18765448G>A , CM000681.2:g.18765448G>A | GRCh38 |
| NC_000019.9:g.18876258G>A , CM000681.1:g.18876258G>A | GRCh37 |
| NC_000019.8:g.18737258G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321949.13:c.931G>A MANE Select | ENSP00000323332.7:p.Val311Ile | |
| ENST00000321949.12:c.931G>A | ENSP00000323332.7:p.Val311Ile | |
| ENST00000338797.10:c.979G>A | ENSP00000345001.5:p.Val327Ile | |
| ENST00000594658.5:c.808G>A | ENSP00000468893.1:p.Val270Ile | |
| ENST00000601916.1:c.706G>A | ENSP00000469285.1:p.Val236Ile | |
| NM_001098482.1:c.979G>A | NP_001091952.1:p.Val327Ile | |
| NM_015321.2:c.931G>A | NP_056136.2:p.Val311Ile | |
| XM_005259833.2:c.979G>A | XP_005259890.1:p.Val327Ile | |
| XM_005259834.1:c.931G>A | XP_005259891.1:p.Val311Ile | |
| XM_005259835.2:c.979G>A | XP_005259892.1:p.Val327Ile | |
| XM_005259836.2:c.979G>A | XP_005259893.1:p.Val327Ile | |
| XM_006722710.2:c.979G>A | XP_006722773.1:p.Val327Ile | |
| XM_011527842.1:c.979G>A | XP_011526144.1:p.Val327Ile | |
| XM_005259833.3:c.979G>A | XP_005259890.1:p.Val327Ile | |
| XM_005259835.3:c.979G>A | XP_005259892.1:p.Val327Ile | |
| XM_005259836.3:c.979G>A | XP_005259893.1:p.Val327Ile | |
| XM_006722710.3:c.979G>A | XP_006722773.1:p.Val327Ile | |
| XM_011527842.3:c.979G>A | XP_011526144.1:p.Val327Ile | |
| XM_017026536.1:c.979G>A | XP_016882025.1:p.Val327Ile | |
| XM_017026537.1:c.979G>A | XP_016882026.1:p.Val327Ile | |
| XM_024451434.1:c.931G>A | XP_024307202.1:p.Val311Ile | |
| NM_015321.3:c.931G>A MANE Select | NP_056136.2:p.Val311Ile | |
| NM_001098482.2:c.979G>A | NP_001091952.1:p.Val327Ile |