COSMIC:
COSN14920301 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74413392 (AFR)
Genomes Max Group AF
0.74413392 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.105394455T>A , CM000668.2:g.105394455T>A | GRCh38 |
| NC_000006.11:g.105842330T>A , CM000668.1:g.105842330T>A | GRCh37 |
| NC_000006.10:g.105949023T>A | NCBI36 |
| NG_011472.1:g.13640A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369110.8:c.-79+3398A>T | ENSP00000358106.4:n.-79+3398A>T | |
| ENST00000652536.2:c.120+3398A>T MANE Select | ENSP00000499089.1:n.120+3398A>T | |
| ENST00000369110.7:c.120+3398A>T | ENSP00000358106.3:n.120+3398A>T | |
| NM_002726.4:c.120+3398A>T | NP_002717.3:n.120+3398A>T | |
| XM_005267044.1:c.120+3398A>T | XP_005267101.1:n.120+3398A>T | |
| XM_011535925.1:c.120+3398A>T | XP_011534227.1:n.120+3398A>T | |
| XM_005267044.3:c.120+3398A>T | XP_005267101.1:n.120+3398A>T | |
| XM_011535925.3:c.120+3398A>T | XP_011534227.1:n.120+3398A>T | |
| NM_002726.5:c.120+3398A>T MANE Select | NP_002717.3:n.120+3398A>T |