COSMIC:
COSN6507416 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13601776 (SAS)
Genomes Max Group AF
0.13979059 (SAS)
Exomes Max Group AF
0.13559008 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154572175G>T , CM000663.2:g.154572175G>T | GRCh38 |
| NC_000001.10:g.154544651G>T , CM000663.1:g.154544651G>T | GRCh37 |
| NC_000001.9:g.152811275G>T | NCBI36 |
| NG_008027.1:g.9395G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.1338+14G>T MANE Select | ENSP00000357461.3:n.1338+14G>T | |
| ENST00000636034.1:c.1338+14G>T | ENSP00000489703.1:n.1338+14G>T | |
| ENST00000637900.1:c.1344+14G>T | ENSP00000490474.1:n.1344+14G>T | |
| ENST00000368476.3:c.1338+14G>T | ENSP00000357461.3:n.1338+14G>T | |
| NM_000748.2:c.1338+14G>T | NP_000739.1:n.1338+14G>T | |
| XM_017000180.2:c.828+14G>T | XP_016855669.1:n.828+14G>T | |
| XR_001736952.2:n.1590+14G>T | ||
| NM_000748.3:c.1338+14G>T MANE Select | NP_000739.1:n.1338+14G>T |