COSMIC:
COSN6623885 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51683439 (NFE)
Genomes Max Group AF
0.51683439 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.37706293A>G , CM000675.2:g.37706293A>G | GRCh38 |
| NC_000013.10:g.38280430A>G , CM000675.1:g.38280430A>G | GRCh37 |
| NC_000013.9:g.37178430A>G | NCBI36 |
| NG_029849.1:g.168510T>C | |
| NG_029849.2:g.169133T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379705.8:c.898-13958T>C MANE Select | ENSP00000369027.4:n.898-13958T>C | |
| ENST00000338947.9:c.379-13958T>C | ENSP00000342580.5:n.379-13958T>C | |
| ENST00000355779.6:c.898-13958T>C | ENSP00000348025.2:n.898-13958T>C | |
| ENST00000358477.6:c.898-13958T>C | ENSP00000351264.2:n.898-13958T>C | |
| ENST00000379673.2:c.898-13958T>C | ENSP00000368995.2:n.898-13958T>C | |
| ENST00000379679.5:c.379-13958T>C | ENSP00000369001.1:n.379-13958T>C | |
| ENST00000379705.7:c.898-13958T>C | ENSP00000369027.3:n.898-13958T>C | |
| ENST00000426868.6:c.898-13958T>C | ENSP00000410133.2:n.898-13958T>C | |
| ENST00000488717.5:c.898-31926T>C | ENSP00000435969.1:n.898-31926T>C | |
| ENST00000625583.2:c.898-13958T>C | ENSP00000486109.1:n.898-13958T>C | |
| NM_001135955.1:c.898-13958T>C | NP_001129427.1:n.898-13958T>C | |
| NM_001135956.1:c.898-13958T>C | NP_001129428.1:n.898-13958T>C | |
| NM_001135957.1:c.898-13958T>C | NP_001129429.1:n.898-13958T>C | |
| NM_001135958.1:c.379-13958T>C | NP_001129430.1:n.379-13958T>C | |
| NM_003306.1:c.898-13958T>C | NP_003297.1:n.898-13958T>C | |
| NM_016179.2:c.898-13958T>C | NP_057263.1:n.898-13958T>C | |
| NM_001135955.2:c.898-13958T>C | NP_001129427.1:n.898-13958T>C | |
| NM_001135956.2:c.898-13958T>C | NP_001129428.1:n.898-13958T>C | |
| NM_001135957.2:c.898-13958T>C | NP_001129429.1:n.898-13958T>C | |
| NM_001135958.2:c.379-13958T>C | NP_001129430.1:n.379-13958T>C | |
| NM_001354799.1:c.-352-13958T>C | NP_001341728.1:n.-352-13958T>C | |
| NM_001354806.1:c.-26-31926T>C | NP_001341735.1:n.-26-31926T>C | |
| NM_003306.2:c.898-13958T>C | NP_003297.1:n.898-13958T>C | |
| NM_016179.3:c.898-13958T>C | NP_057263.1:n.898-13958T>C | |
| NM_001135955.3:c.898-13958T>C | NP_001129427.1:n.898-13958T>C | |
| NM_001135956.3:c.898-13958T>C | NP_001129428.1:n.898-13958T>C | |
| NM_001135957.3:c.898-13958T>C | NP_001129429.1:n.898-13958T>C | |
| NM_001135958.3:c.379-13958T>C | NP_001129430.1:n.379-13958T>C | |
| NM_001354799.2:c.-352-13958T>C | NP_001341728.1:n.-352-13958T>C | |
| NM_001354806.2:c.-26-31926T>C | NP_001341735.1:n.-26-31926T>C | |
| NM_001372055.1:c.-310-13958T>C | NP_001358984.1:n.-310-13958T>C | |
| NM_003306.3:c.898-13958T>C | NP_003297.1:n.898-13958T>C | |
| NM_016179.4:c.898-13958T>C MANE Select | NP_057263.1:n.898-13958T>C |