COSMIC:
COSN14794436
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09140411 (NFE)
Genomes Max Group AF
0.09140411 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129498893A>G , CM000668.2:g.129498893A>G | GRCh38 |
| NC_000006.11:g.129820038A>G , CM000668.1:g.129820038A>G | GRCh37 |
| NC_000006.10:g.129861731A>G | NCBI36 |
| NG_008678.1:g.620753A>G , LRG_409:g.620753A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.310-3766A>G | ENSP00000510626.1:n.310-3766A>G | |
| ENST00000498257.6:c.310-3766A>G | ENSP00000510533.1:n.310-3766A>G | |
| ENST00000617695.5:c.8233-3766A>G | ENSP00000481744.2:n.8233-3766A>G | |
| ENST00000618192.5:c.8509-3766A>G | ENSP00000480802.2:n.8509-3766A>G | |
| ENST00000688198.1:n.1223-3766A>G | ||
| ENST00000688799.1:c.310-3766A>G | ENSP00000508458.1:n.310-3766A>G | |
| ENST00000690858.1:n.1239-3766A>G | ||
| ENST00000421865.3:c.8245-3766A>G MANE Select | ENSP00000400365.2:n.8245-3766A>G | |
| ENST00000421865.2:c.8245-3766A>G | ENSP00000400365.2:n.8245-3766A>G | |
| ENST00000498257.5:n.558-3766A>G | ||
| ENST00000617695.4:c.8233-3766A>G | ENSP00000481744.1:n.8233-3766A>G | |
| ENST00000618192.4:c.8242-3766A>G | ENSP00000480802.1:n.8242-3766A>G | |
| NM_000426.3:c.8245-3766A>G , LRG_409t1:c.8245-3766A>G | NP_000417.2:n.8245-3766A>G | |
| NM_001079823.1:c.8233-3766A>G | NP_001073291.1:n.8233-3766A>G | |
| XM_005266981.2:c.8509-3766A>G | XP_005267038.1:n.8509-3766A>G | |
| XM_005266982.2:c.8497-3766A>G | XP_005267039.1:n.8497-3766A>G | |
| XM_011535820.1:c.8503-3766A>G | XP_011534122.1:n.8503-3766A>G | |
| XM_005266981.3:c.8509-3766A>G | XP_005267038.1:n.8509-3766A>G | |
| XM_005266982.3:c.8497-3766A>G | XP_005267039.1:n.8497-3766A>G | |
| XM_011535820.2:c.8503-3766A>G | XP_011534122.1:n.8503-3766A>G | |
| XM_017010851.2:c.8515-3766A>G | XP_016866340.1:n.8515-3766A>G | |
| XM_017010852.1:c.6640-3766A>G | XP_016866341.1:n.6640-3766A>G | |
| XR_001743859.1:n.4087+3712T>C | ||
| XR_001743860.1:n.1366+3712T>C | ||
| XR_001743861.1:n.1533+3712T>C | ||
| XR_001743863.1:n.1069+3712T>C | ||
| XR_002956395.1:n.9318+3712T>C | ||
| XR_002956396.1:n.3313+3712T>C | ||
| NM_000426.4:c.8245-3766A>G MANE Select | NP_000417.3:n.8245-3766A>G | |
| NM_001079823.2:c.8233-3766A>G | NP_001073291.2:n.8233-3766A>G |