COSMIC:
COSN19630685 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65767987 (NFE)
Genomes Max Group AF
0.65323676 (NFE)
Exomes Max Group AF
0.65775296 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.67908257G>T , CM000672.2:g.67908257G>T | GRCh38 |
| NC_000010.10:g.69668014G>T , CM000672.1:g.69668014G>T | GRCh37 |
| NC_000010.9:g.69338020G>T | NCBI36 |
| NG_050664.1:g.28596G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000212015.11:c.1170+132G>T MANE Select | ENSP00000212015.6:n.1170+132G>T | |
| ENST00000212015.10:c.1170+132G>T | ENSP00000212015.6:n.1170+132G>T | |
| ENST00000403579.1:c.261+132G>T | ENSP00000384063.1:n.261+132G>T | |
| ENST00000406900.5:c.261+132G>T | ENSP00000384508.1:n.261+132G>T | |
| ENST00000432464.5:c.285+132G>T | ENSP00000409208.1:n.285+132G>T | |
| NM_001142498.1:c.285+132G>T | NP_001135970.1:n.285+132G>T | |
| NM_001314049.1:c.261+132G>T | NP_001300978.1:n.261+132G>T | |
| NM_012238.4:c.1170+132G>T | NP_036370.2:n.1170+132G>T | |
| XM_006717737.2:c.1017+132G>T | XP_006717800.1:n.1017+132G>T | |
| XM_011539561.1:c.594+132G>T | XP_011537863.1:n.594+132G>T | |
| NM_012238.5:c.1170+132G>T MANE Select | NP_036370.2:n.1170+132G>T | |
| NM_001142498.2:c.285+132G>T | NP_001135970.1:n.285+132G>T |