COSMIC:
COSN17077065 (not active)
COSN17077183 (not active)
COSN17077286 (not active)
COSN17077335 (not active)
COSN17077399 (not active)
COSN17078013 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39436021 (MID)
Genomes Max Group AF
0.25649834 (NFE)
Exomes Max Group AF
0.39284148 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31094233A>C , CM000678.2:g.31094233A>C | GRCh38 |
| NC_000016.9:g.31105554A>C , CM000678.1:g.31105554A>C | GRCh37 |
| NC_000016.8:g.31013055A>C | NCBI36 |
| NG_011564.1:g.5723T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394975.3:c.173+324T>G MANE Select | ENSP00000378426.2:n.173+324T>G | |
| ENST00000300851.10:c.173+324T>G | ENSP00000300851.6:n.173+324T>G | |
| ENST00000319788.11:c.173+324T>G | ENSP00000326135.7:n.173+324T>G | |
| ENST00000354895.4:c.173+324T>G | ENSP00000346969.4:n.173+324T>G | |
| ENST00000394971.7:c.267+2T>G | ENSP00000378422.3:n.267+2T>G | |
| ENST00000394975.2:c.173+324T>G | ENSP00000378426.2:n.173+324T>G | |
| ENST00000420057.2:c.245+1156T>G | ||
| ENST00000498155.1:c.271-812T>G | ENSP00000417662.1:n.271-812T>G | |
| ENST00000529564.1:c.173+324T>G | ENSP00000431371.1:n.173+324T>G | |
| ENST00000532364.1:c.173+324T>G | ENSP00000460316.1:n.173+324T>G | |
| ENST00000533518.5:c.46+324T>G | ||
| NM_001311311.1:c.173+324T>G | NP_001298240.1:n.173+324T>G | |
| NM_024006.4:c.173+324T>G | NP_076869.1:n.173+324T>G | |
| NM_024006.5:c.173+324T>G | NP_076869.1:n.173+324T>G | |
| NM_206824.1:c.173+324T>G | NP_996560.1:n.173+324T>G | |
| NM_206824.2:c.173+324T>G | NP_996560.1:n.173+324T>G | |
| XM_011545944.1:c.173+324T>G | XP_011544246.1:n.173+324T>G | |
| XM_011545945.1:c.173+324T>G | XP_011544247.1:n.173+324T>G | |
| XR_950848.1:n.961+324T>G | ||
| NM_024006.6:c.173+324T>G MANE Select | NP_076869.1:n.173+324T>G | |
| NM_001311311.2:c.173+324T>G | NP_001298240.1:n.173+324T>G | |
| NM_206824.3:c.173+324T>G | NP_996560.1:n.173+324T>G |