COSMIC:
COSM1209639 (not active)
COSM1209640 (not active)
Revel Score:
ENST00000458501
0.457
ENST00000379644 (MANE Select)
0.457
ENST00000521576
0.457
ENST00000297798
0.457
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00552241 (NFE)
Genomes Max Group AF
0.00512229 (NFE)
Exomes Max Group AF
0.00552138 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43199504G>A , CM000670.2:g.43199504G>A | GRCh38 |
| NC_000008.10:g.43054647G>A , CM000670.1:g.43054647G>A | GRCh37 |
| NC_000008.9:g.43173804G>A | NCBI36 |
| NG_009552.1:g.64056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1843G>A MANE Select | ENSP00000368965.4:p.Ala615Thr | |
| ENST00000379644.8:c.1843G>A | ENSP00000368965.4:p.Ala615Thr | |
| ENST00000519705.1:n.1159G>A | ||
| ENST00000521576.1:c.994G>A | ENSP00000429029.1:p.Ala332Thr | |
| NM_152419.2:c.1843G>A | NP_689632.2:p.Ala615Thr | |
| XM_005273409.1:c.1954G>A | XP_005273466.1:p.Ala652Thr | |
| XM_005273410.1:c.1930G>A | XP_005273467.1:p.Ala644Thr | |
| XM_005273411.1:c.1762G>A | XP_005273468.1:p.Ala588Thr | |
| NM_001363227.1:c.1930G>A | NP_001350156.1:p.Ala644Thr | |
| NM_001363228.1:c.1651G>A | NP_001350157.1:p.Ala551Thr | |
| NM_001363229.1:c.979G>A | NP_001350158.1:p.Ala327Thr | |
| NM_152419.3:c.1843G>A MANE Select | NP_689632.2:p.Ala615Thr | |
| NM_001363227.2:c.1930G>A | NP_001350156.1:p.Ala644Thr | |
| NM_001363228.2:c.1651G>A | NP_001350157.1:p.Ala551Thr | |
| NM_001363229.2:c.979G>A | NP_001350158.1:p.Ala327Thr |