COSMIC:
COSN14786179 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65317643 (AMR)
Genomes Max Group AF
0.65317643 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177076562A>G , CM000667.2:g.177076562A>G | GRCh38 |
| NC_000005.9:g.176503563A>G , CM000667.1:g.176503563A>G | GRCh37 |
| NC_000005.8:g.176436169A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503039.1:c.*3-2820A>G | ENSP00000424495.1:n.*3-2820A>G | |
| ENST00000512315.5:c.*3-2820A>G | ENSP00000421089.1:n.*3-2820A>G | |
| NM_001308213.1:c.*3-2820A>G | NP_001295142.1:n.*3-2820A>G | |
| NM_001308219.1:c.463-2820A>G | NP_001295148.1:n.463-2820A>G | |
| NM_001308223.1:c.*3-2820A>G | NP_001295152.1:n.*3-2820A>G | |
| XM_005265860.2:c.*3-2820A>G | XP_005265917.1:n.*3-2820A>G | |
| XM_011534494.1:c.917-2820A>G | XP_011532796.1:n.917-2820A>G | |
| XR_941096.1:n.679-2820A>G | ||
| NM_001363713.1:c.*3-2820A>G | NP_001350642.1:n.*3-2820A>G | |
| XM_017009295.2:c.*3-2820A>G | XP_016864784.1:n.*3-2820A>G | |
| NM_001308213.2:c.*3-2820A>G | NP_001295142.1:n.*3-2820A>G | |
| NM_001308219.2:c.463-2820A>G | NP_001295148.1:n.463-2820A>G | |
| NM_001308223.2:c.*3-2820A>G | NP_001295152.1:n.*3-2820A>G | |
| NM_001363713.2:c.*3-2820A>G | NP_001350642.1:n.*3-2820A>G |