COSMIC:
COSN17135712 (not active)
COSN17138482 (not active)
COSN17145162 (not active)
COSN17147856 (not active)
COSN17149654 (not active)
COSN17151529 (not active)
COSN17152536 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1609695 (EAS)
Genomes Max Group AF
0.18766196 (EAS)
Exomes Max Group AF
0.15643529 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57098962G>A , CM000674.2:g.57098962G>A | GRCh38 |
| NC_000012.11:g.57492745G>A , CM000674.1:g.57492745G>A | GRCh37 |
| NC_000012.10:g.55779012G>A | NCBI36 |
| NG_021272.1:g.17452C>T | |
| NG_021272.2:g.38178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300134.8:c.1955+53C>T MANE Select | ENSP00000300134.3:n.1955+53C>T | |
| ENST00000553533.2:c.2009+53C>T | ENSP00000451546.2:n.2009+53C>T | |
| ENST00000554764.6:c.*1699+53C>T | ENSP00000451909.1:n.*1699+53C>T | |
| ENST00000640254.2:c.1955+53C>T | ENSP00000491116.2:n.1955+53C>T | |
| ENST00000651176.1:c.1955+53C>T | ENSP00000498693.1:n.1955+53C>T | |
| ENST00000300134.7:c.1955+53C>T | ENSP00000300134.3:n.1955+53C>T | |
| ENST00000454075.7:c.1955+53C>T | ENSP00000401486.3:n.1955+53C>T | |
| ENST00000537215.6:c.1625+53C>T | ENSP00000444530.2:n.1625+53C>T | |
| ENST00000538913.6:c.1625+53C>T | ENSP00000445409.2:n.1625+53C>T | |
| ENST00000543873.6:c.1955+53C>T | ENSP00000438451.2:n.1955+53C>T | |
| ENST00000554202.1:n.90+53C>T | ||
| ENST00000554764.5:c.*1699+53C>T | ENSP00000451909.1:n.*1699+53C>T | |
| ENST00000555222.5:n.869C>T | ||
| ENST00000555318.1:c.239+53C>T | ENSP00000450428.1:n.239+53C>T | |
| ENST00000556155.5:c.1955+53C>T | ENSP00000451742.1:n.1955+53C>T | |
| NM_001178078.1:c.1955+53C>T | NP_001171549.1:n.1955+53C>T | |
| NM_001178079.1:c.1955+53C>T | NP_001171550.1:n.1955+53C>T | |
| NM_001178080.1:c.1625+53C>T | NP_001171551.1:n.1625+53C>T | |
| NM_001178081.1:c.1625+53C>T | NP_001171552.1:n.1625+53C>T | |
| NM_003153.4:c.1955+53C>T | NP_003144.3:n.1955+53C>T | |
| NR_033659.1:n.2122+53C>T | ||
| XM_006719574.1:c.1955+53C>T | XP_006719637.1:n.1955+53C>T | |
| XM_006719575.1:c.1955+53C>T | XP_006719638.1:n.1955+53C>T | |
| XM_011538703.1:c.2009+53C>T | XP_011537005.1:n.2009+53C>T | |
| XM_011538704.1:c.2009+53C>T | XP_011537006.1:n.2009+53C>T | |
| XM_011538705.1:c.2009+53C>T | XP_011537007.1:n.2009+53C>T | |
| XM_011538706.1:c.2009+53C>T | XP_011537008.1:n.2009+53C>T | |
| XM_011538707.1:c.2009+53C>T | XP_011537009.1:n.2009+53C>T | |
| XM_011538708.1:c.1679+53C>T | XP_011537010.1:n.1679+53C>T | |
| XM_011538709.1:c.1679+53C>T | XP_011537011.1:n.1679+53C>T | |
| XM_011538703.3:c.2009+53C>T | XP_011537005.1:n.2009+53C>T | |
| XM_011538704.3:c.2009+53C>T | XP_011537006.1:n.2009+53C>T | |
| XM_011538705.3:c.2009+53C>T | XP_011537007.1:n.2009+53C>T | |
| XM_011538707.3:c.2009+53C>T | XP_011537009.1:n.2009+53C>T | |
| XM_011538708.3:c.1679+53C>T | XP_011537010.1:n.1679+53C>T | |
| NM_003153.5:c.1955+53C>T MANE Select | NP_003144.3:n.1955+53C>T | |
| NM_001178078.2:c.1955+53C>T | NP_001171549.1:n.1955+53C>T | |
| NM_001178079.2:c.1955+53C>T | NP_001171550.1:n.1955+53C>T | |
| NM_001178080.2:c.1625+53C>T | NP_001171551.1:n.1625+53C>T | |
| NM_001178081.2:c.1625+53C>T | NP_001171552.1:n.1625+53C>T | |
| NR_033659.2:n.2071+53C>T |