COSMIC:
COSN14783745 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58845677 (AFR)
Genomes Max Group AF
0.58845677 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157505368A>C , CM000667.2:g.157505368A>C | GRCh38 |
| NC_000005.9:g.156932376A>C , CM000667.1:g.156932376A>C | GRCh37 |
| NC_000005.8:g.156864954A>C | NCBI36 |
| NG_046960.1:g.75456T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257527.9:c.1130+301T>G MANE Select | ENSP00000257527.5:n.1130+301T>G | |
| ENST00000257527.8:c.1130+301T>G | ENSP00000257527.4:n.1130+301T>G | |
| ENST00000517905.1:c.1130+301T>G | ENSP00000428654.1:n.1130+301T>G | |
| ENST00000517951.5:c.*321+301T>G | ENSP00000428376.1:n.*321+301T>G | |
| NM_033274.4:c.1130+301T>G | NP_150377.1:n.1130+301T>G | |
| XM_005266003.2:c.1130+301T>G | XP_005266060.1:n.1130+301T>G | |
| XM_011534680.1:c.329+301T>G | XP_011532982.1:n.329+301T>G | |
| XM_011534681.1:c.329+301T>G | XP_011532983.1:n.329+301T>G | |
| XM_011534682.1:c.329+301T>G | XP_011532984.1:n.329+301T>G | |
| XM_011534682.2:c.329+301T>G | XP_011532984.1:n.329+301T>G | |
| XM_017010009.1:c.329+301T>G | XP_016865498.1:n.329+301T>G | |
| NM_033274.5:c.1130+301T>G MANE Select | NP_150377.1:n.1130+301T>G |