ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002202 (AFR)
Genomes Max Group AF
0.00018543 (AFR)
Exomes Max Group AF
0.0001835 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42227693A>G , CM000679.2:g.42227693A>G | GRCh38 |
| NC_000017.10:g.40379711A>G , CM000679.1:g.40379711A>G | GRCh37 |
| NC_000017.9:g.37633237A>G | NCBI36 |
| NG_007271.1:g.53714T>C , LRG_192:g.53714T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415845.2:c.129-8T>C | ENSP00000398379.2:n.129-8T>C | |
| ENST00000698774.1:n.303-8T>C | ||
| ENST00000698775.1:c.*135-8T>C | ENSP00000513922.1:n.*135-8T>C | |
| ENST00000698776.1:c.129-8T>C | ENSP00000513923.1:n.129-8T>C | |
| ENST00000698777.1:c.129-8T>C | ENSP00000513924.1:n.129-8T>C | |
| ENST00000698778.1:c.129-8T>C | ENSP00000513925.1:n.129-8T>C | |
| ENST00000698779.1:c.129-8T>C | ENSP00000513926.1:n.129-8T>C | |
| ENST00000698802.1:c.129-2825T>C | ENSP00000513944.1:n.129-2825T>C | |
| ENST00000698803.1:c.129-36T>C | ENSP00000513945.1:n.129-36T>C | |
| ENST00000698804.1:n.248-8T>C | ||
| ENST00000698805.1:n.250-8T>C | ||
| ENST00000698806.1:c.129-2825T>C | ENSP00000513946.1:n.129-2825T>C | |
| ENST00000698807.1:n.283-8T>C | ||
| ENST00000698808.1:c.129-8T>C | ENSP00000513947.1:n.129-8T>C | |
| ENST00000698809.1:c.129-8T>C | ENSP00000513948.1:n.129-8T>C | |
| ENST00000698810.1:c.129-36T>C | ENSP00000513949.1:n.129-36T>C | |
| ENST00000698812.1:c.*135-8T>C | ENSP00000513950.1:n.*135-8T>C | |
| ENST00000698813.1:c.129-8T>C | ENSP00000513951.1:n.129-8T>C | |
| ENST00000698814.1:c.129-8T>C | ENSP00000513952.1:n.129-8T>C | |
| ENST00000698815.1:c.129-8T>C | ENSP00000513953.1:n.129-8T>C | |
| ENST00000698816.1:n.217-8T>C | ||
| ENST00000698817.1:n.141-8T>C | ||
| ENST00000293328.8:c.129-8T>C MANE Select | ENSP00000293328.3:n.129-8T>C | |
| ENST00000293328.7:c.129-8T>C | ENSP00000293328.3:n.129-8T>C | |
| ENST00000415845.1:c.129-8T>C | ENSP00000398379.1:n.129-8T>C | |
| ENST00000468312.1:n.298-8T>C | ||
| NM_012448.3:c.129-8T>C , LRG_192t1:c.129-8T>C | NP_036580.2:n.129-8T>C | |
| XM_005257625.2:c.4-2825T>C | XP_005257682.1:n.4-2825T>C | |
| XM_005257626.3:c.129-8T>C | XP_005257683.1:n.129-8T>C | |
| XM_005257626.4:c.129-8T>C | XP_005257683.1:n.129-8T>C | |
| XM_017024977.1:c.4-2825T>C | XP_016880466.1:n.4-2825T>C | |
| XM_024450897.1:c.129-8T>C | XP_024306665.1:n.129-8T>C | |
| XM_024450898.1:c.129-8T>C | XP_024306666.1:n.129-8T>C | |
| NM_012448.4:c.129-8T>C MANE Select | NP_036580.2:n.129-8T>C |