COSMIC:
COSN19640735 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33128454 (EAS)
Genomes Max Group AF
0.32997817 (EAS)
Exomes Max Group AF
0.32997376 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.37569449G>A , CM000675.2:g.37569449G>A | GRCh38 |
| NC_000013.10:g.38143586G>A , CM000675.1:g.38143586G>A | GRCh37 |
| NC_000013.9:g.37041586G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379747.9:c.2348-66C>T MANE Select | ENSP00000369071.4:n.2348-66C>T | |
| ENST00000379742.4:c.2177-66C>T | ENSP00000369066.4:n.2177-66C>T | |
| ENST00000379743.8:c.2267-66C>T | ENSP00000369067.4:n.2267-66C>T | |
| ENST00000379747.8:c.2348-66C>T | ENSP00000369071.4:n.2348-66C>T | |
| ENST00000379749.8:c.2347+295C>T | ENSP00000369073.4:n.2347+295C>T | |
| ENST00000473823.5:n.310+295C>T | ||
| ENST00000474646.1:n.48-66C>T | ||
| ENST00000497145.1:n.1035-66C>T | ||
| ENST00000541179.5:c.2266+295C>T | ENSP00000437959.1:n.2266+295C>T | |
| ENST00000541481.5:c.2087-66C>T | ENSP00000437953.1:n.2087-66C>T | |
| NM_001135934.1:c.2177-66C>T | NP_001129406.1:n.2177-66C>T | |
| NM_001135935.1:c.2266+295C>T | NP_001129407.1:n.2266+295C>T | |
| NM_001135936.1:c.2176+295C>T | NP_001129408.1:n.2176+295C>T | |
| NM_001286665.1:c.2267-66C>T | NP_001273594.1:n.2267-66C>T | |
| NM_001286666.1:c.2087-66C>T | NP_001273595.1:n.2087-66C>T | |
| NM_001286667.1:c.2086+295C>T | NP_001273596.1:n.2086+295C>T | |
| NM_006475.2:c.2348-66C>T | NP_006466.2:n.2348-66C>T | |
| XM_005266231.2:c.2347+295C>T | XP_005266288.1:n.2347+295C>T | |
| XM_005266232.2:c.2258-66C>T | XP_005266289.1:n.2258-66C>T | |
| NM_001330517.1:c.2347+295C>T | NP_001317446.1:n.2347+295C>T | |
| XM_017020355.1:c.2348-66C>T | XP_016875844.1:n.2348-66C>T | |
| XM_017020356.1:c.2348-66C>T | XP_016875845.1:n.2348-66C>T | |
| NM_006475.3:c.2348-66C>T MANE Select | NP_006466.2:n.2348-66C>T | |
| NM_001135934.2:c.2177-66C>T | NP_001129406.1:n.2177-66C>T | |
| NM_001135936.2:c.2176+295C>T | NP_001129408.1:n.2176+295C>T | |
| NM_001286665.2:c.2267-66C>T | NP_001273594.1:n.2267-66C>T | |
| NM_001286667.2:c.2086+295C>T | NP_001273596.1:n.2086+295C>T | |
| NM_001330517.2:c.2347+295C>T | NP_001317446.1:n.2347+295C>T | |
| NM_001135935.2:c.2266+295C>T | NP_001129407.1:n.2266+295C>T | |
| NM_001286666.2:c.2087-66C>T | NP_001273595.1:n.2087-66C>T |