gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000074 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55810697G>A , CM000678.2:g.55810697G>A | GRCh38 |
| NC_000016.9:g.55844609G>A , CM000678.1:g.55844609G>A | GRCh37 |
| NC_000016.8:g.54402110G>A | NCBI36 |
| NG_012057.1:g.27467C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360526.8:c.1171-33C>T MANE Select | ENSP00000353720.4:n.1171-33C>T | |
| ENST00000360526.7:c.1171-33C>T | ENSP00000353720.3:n.1171-33C>T | |
| ENST00000361503.8:c.1168-33C>T | ENSP00000355193.4:n.1168-33C>T | |
| ENST00000422046.6:c.1165-33C>T | ENSP00000390492.2:n.1165-33C>T | |
| ENST00000565568.1:c.72+2206C>T | ENSP00000455902.1:n.72+2206C>T | |
| ENST00000569260.1:c.406-33C>T | ||
| NM_001025194.1:c.1168-33C>T | NP_001020365.1:n.1168-33C>T | |
| NM_001025195.1:c.1171-33C>T | NP_001020366.1:n.1171-33C>T | |
| NM_001266.4:c.1165-33C>T | NP_001257.4:n.1165-33C>T | |
| XM_005255774.1:c.1168-33C>T | XP_005255831.1:n.1168-33C>T | |
| XM_005255774.2:c.1168-33C>T | XP_005255831.1:n.1168-33C>T | |
| NM_001025194.2:c.1168-33C>T | NP_001020365.1:n.1168-33C>T | |
| NM_001025195.2:c.1171-33C>T MANE Select | NP_001020366.1:n.1171-33C>T | |
| NM_001266.5:c.1165-33C>T | NP_001257.4:n.1165-33C>T |