COSMIC:
COSN14976706 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58654648 (EAS)
Genomes Max Group AF
0.58654648 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5455732T>G , CM000671.2:g.5455732T>G | GRCh38 |
| NC_000009.11:g.5455732T>G , CM000671.1:g.5455732T>G | GRCh37 |
| NC_000009.10:g.5445732T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381577.4:c.-14-368T>G MANE Select | ENSP00000370989.3:n.-14-368T>G | |
| ENST00000381573.8:c.-14-368T>G | ENSP00000370985.4:n.-14-368T>G | |
| ENST00000381577.3:c.-14-368T>G | ENSP00000370989.3:n.-14-368T>G | |
| NM_001267706.1:c.-14-368T>G | NP_001254635.1:n.-14-368T>G | |
| NM_001314029.1:c.-14-368T>G | NP_001300958.1:n.-14-368T>G | |
| NM_014143.3:c.-14-368T>G | NP_054862.1:n.-14-368T>G | |
| NR_052005.1:n.95-368T>G | ||
| XM_006716759.2:c.-14-368T>G | XP_006716822.1:n.-14-368T>G | |
| NM_014143.4:c.-14-368T>G MANE Select | NP_054862.1:n.-14-368T>G | |
| NM_001314029.2:c.-14-368T>G | NP_001300958.1:n.-14-368T>G | |
| NR_052005.2:n.56-368T>G | ||
| NM_001267706.2:c.-14-368T>G | NP_001254635.1:n.-14-368T>G |