COSMIC:
COSN14905225 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71864824 (EAS)
Genomes Max Group AF
0.71864824 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151125955T>C , CM000667.2:g.151125955T>C | GRCh38 |
| NC_000005.9:g.150505516T>C , CM000667.1:g.150505516T>C | GRCh37 |
| NC_000005.8:g.150485709T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700367.1:c.1056+447A>G | ENSP00000514965.1:n.1056+447A>G | |
| ENST00000354546.10:c.1056+447A>G MANE Select | ENSP00000346550.5:n.1056+447A>G | |
| ENST00000354546.9:c.1056+447A>G | ENSP00000346550.5:n.1056+447A>G | |
| ENST00000377751.9:c.205-3695A>G | ENSP00000366980.5:n.205-3695A>G | |
| ENST00000517486.5:c.318+12723A>G | ENSP00000428916.1:n.318+12723A>G | |
| ENST00000519644.6:c.*19+447A>G | ENSP00000430663.2:n.*19+447A>G | |
| ENST00000520054.1:n.270+447A>G | ||
| ENST00000521512.5:c.435+447A>G | ENSP00000430420.1:n.435+447A>G | |
| ENST00000523714.5:c.960+447A>G | ENSP00000430517.1:n.960+447A>G | |
| NM_001155.4:c.1056+447A>G | NP_001146.2:n.1056+447A>G | |
| NM_001193544.1:c.960+447A>G | NP_001180473.1:n.960+447A>G | |
| XM_005268432.3:c.1056+447A>G | XP_005268489.1:n.1056+447A>G | |
| NM_001363114.1:c.1056+447A>G | NP_001350043.1:n.1056+447A>G | |
| NM_001155.5:c.1056+447A>G MANE Select | NP_001146.2:n.1056+447A>G | |
| NM_001193544.2:c.960+447A>G | NP_001180473.1:n.960+447A>G | |
| NM_001363114.2:c.1056+447A>G | NP_001350043.1:n.1056+447A>G |