COSMIC:
COSN15303324 (not active)
COSN15330482 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94931181 (AFR)
Genomes Max Group AF
0.94378585 (AFR)
Exomes Max Group AF
0.95086081 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220652181A>G , CM000663.2:g.220652181A>G | GRCh38 |
| NC_000001.10:g.220825523A>G , CM000663.1:g.220825523A>G | GRCh37 |
| NC_000001.9:g.218892146A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366917.6:c.1736+31A>G MANE Select | ENSP00000355884.5:n.1736+31A>G | |
| ENST00000677041.1:c.*1659+31A>G | ENSP00000504826.1:n.*1659+31A>G | |
| ENST00000677074.1:n.2924+31A>G | ||
| ENST00000677505.1:c.1670+31A>G | ENSP00000504370.1:n.1670+31A>G | |
| ENST00000678435.1:c.1406+31A>G | ENSP00000503257.1:n.1406+31A>G | |
| ENST00000366917.5:c.1736+31A>G | ENSP00000355884.4:n.1736+31A>G | |
| ENST00000366918.8:c.1670+31A>G | ENSP00000355885.4:n.1670+31A>G | |
| ENST00000402574.5:c.1736+31A>G | ENSP00000386017.2:n.1736+31A>G | |
| ENST00000611084.4:c.1736+31A>G | ENSP00000483424.1:n.1736+31A>G | |
| NM_001286124.1:c.1736+31A>G | NP_001273053.1:n.1736+31A>G | |
| NM_001286126.1:c.1736+31A>G | NP_001273055.1:n.1736+31A>G | |
| NM_001286128.1:c.1670+31A>G | NP_001273057.1:n.1670+31A>G | |
| NM_018650.4:c.1736+31A>G | NP_061120.3:n.1736+31A>G | |
| XM_005273134.3:c.1736+31A>G | XP_005273191.1:n.1736+31A>G | |
| XM_006711326.2:c.1472+31A>G | XP_006711389.1:n.1472+31A>G | |
| XM_006711327.2:c.1244+31A>G | XP_006711390.1:n.1244+31A>G | |
| XM_011509561.1:c.1712+31A>G | XP_011507863.1:n.1712+31A>G | |
| XM_011509562.1:c.1406+31A>G | XP_011507864.1:n.1406+31A>G | |
| XM_005273134.5:c.1736+31A>G | XP_005273191.1:n.1736+31A>G | |
| XM_006711326.4:c.1472+31A>G | XP_006711389.1:n.1472+31A>G | |
| XM_011509561.3:c.1712+31A>G | XP_011507863.1:n.1712+31A>G | |
| XM_011509562.3:c.1406+31A>G | XP_011507864.1:n.1406+31A>G | |
| XM_017001305.2:c.1406+31A>G | XP_016856794.1:n.1406+31A>G | |
| XM_017001306.2:c.1406+31A>G | XP_016856795.1:n.1406+31A>G | |
| XM_017001307.2:c.1406+31A>G | XP_016856796.1:n.1406+31A>G | |
| NM_001286128.2:c.1670+31A>G | NP_001273057.1:n.1670+31A>G | |
| NM_018650.5:c.1736+31A>G MANE Select | NP_061120.3:n.1736+31A>G | |
| NM_001286124.2:c.1736+31A>G | NP_001273053.1:n.1736+31A>G | |
| NM_001286126.2:c.1736+31A>G | NP_001273055.1:n.1736+31A>G |