COSMIC:
COSN14962080 (not active)
COSN16211924 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35831165 (MID)
Genomes Max Group AF
0.31062105 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.165653494C>T , CM000668.2:g.165653494C>T | GRCh38 |
| NC_000006.11:g.166066982C>T , CM000668.1:g.166066982C>T | GRCh37 |
| NC_000006.10:g.165986972C>T | NCBI36 |
| NG_031878.2:g.13607G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366882.7:c.-614-109926G>A | ENSP00000355847.3:n.-614-109926G>A | |
| ENST00000685292.1:n.706+57525G>A | ||
| ENST00000366882.6:c.67+8453G>A | ENSP00000355847.2:n.67+8453G>A | |
| ENST00000539869.4:c.865+8453G>A MANE Select | ENSP00000438284.3:n.865+8453G>A | |
| ENST00000647590.1:c.16+7461G>A | ENSP00000497062.1:n.16+7461G>A | |
| ENST00000647768.3:c.241+57525G>A | ENSP00000497930.3:n.241+57525G>A | |
| ENST00000647837.1:c.154+8453G>A | ENSP00000497085.1:n.154+8453G>A | |
| ENST00000648917.1:c.73+1319G>A | ENSP00000497277.1:n.73+1319G>A | |
| ENST00000649247.1:c.69+1319G>A | ||
| ENST00000672859.1:c.118+57525G>A | ENSP00000500900.1:n.118+57525G>A | |
| ENST00000672902.1:c.118+57525G>A | ENSP00000500351.1:n.118+57525G>A | |
| ENST00000676766.1:c.107-109926G>A | ENSP00000504611.1:n.107-109926G>A | |
| ENST00000678161.1:c.118+57525G>A | ENSP00000503721.1:n.118+57525G>A | |
| ENST00000366882.5:c.-2+8453G>A | ENSP00000355847.1:n.-2+8453G>A | |
| ENST00000539869.2:c.67+8453G>A | ENSP00000438284.2:n.67+8453G>A | |
| ENST00000580695.1:n.497-109926G>A | ||
| NM_001130690.2:c.67+8453G>A | NP_001124162.1:n.67+8453G>A | |
| NM_006661.3:c.-92+8453G>A | NP_006652.1:n.-92+8453G>A | |
| XM_011535387.1:c.118+57525G>A | XP_011533689.1:n.118+57525G>A | |
| XM_011535391.1:c.-420+8453G>A | XP_011533693.1:n.-420+8453G>A | |
| XM_011535387.3:c.193+57525G>A | XP_011533689.2:n.193+57525G>A | |
| XM_017010194.2:c.193+57525G>A | XP_016865683.1:n.193+57525G>A | |
| XM_017010197.2:c.193+57525G>A | XP_016865686.1:n.193+57525G>A | |
| XM_024446311.1:c.-92+57525G>A | XP_024302079.1:n.-92+57525G>A | |
| XR_001743121.2:n.2268+57525G>A | ||
| NM_001130690.3:c.67+8453G>A | NP_001124162.1:n.67+8453G>A | |
| NM_006661.4:c.-92+8453G>A | NP_006652.1:n.-92+8453G>A | |
| NM_001385079.1:c.865+8453G>A MANE Select | NP_001372008.1:n.865+8453G>A |