gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78429306 (NFE)
Genomes Max Group AF
0.78429306 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223984392A>C , CM000664.2:g.223984392A>C | GRCh38 |
| NC_000002.11:g.224849109A>C , CM000664.1:g.224849109A>C | GRCh37 |
| NC_000002.10:g.224557353A>C | NCBI36 |
| NG_032907.1:g.59928T>G | |
| NG_032907.2:g.59928T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258405.9:c.884+360T>G | ENSP00000258405.4:n.884+360T>G | |
| ENST00000409304.6:c.884+360T>G MANE Select | ENSP00000386412.1:n.884+360T>G | |
| ENST00000258405.8:c.884+360T>G | ENSP00000258405.4:n.884+360T>G | |
| ENST00000409304.5:c.884+360T>G | ENSP00000386412.1:n.884+360T>G | |
| ENST00000409840.7:c.884+360T>G | ENSP00000386969.3:n.884+360T>G | |
| ENST00000447280.6:c.920+360T>G | ENSP00000415786.2:n.920+360T>G | |
| ENST00000478966.1:n.317+360T>G | ||
| NM_001136528.1:c.884+360T>G | NP_001130000.1:n.884+360T>G | |
| NM_001136530.1:c.920+360T>G | NP_001130002.1:n.920+360T>G | |
| NM_006216.3:c.884+360T>G | NP_006207.1:n.884+360T>G | |
| NR_073116.1:n.1545+360T>G | ||
| XM_005246641.2:c.920+360T>G | XP_005246698.1:n.920+360T>G | |
| XM_005246642.2:c.884+360T>G | XP_005246699.1:n.884+360T>G | |
| XM_017004330.1:c.884+360T>G | XP_016859819.1:n.884+360T>G | |
| XM_017004332.2:c.884+360T>G | XP_016859821.1:n.884+360T>G | |
| NM_001136528.2:c.884+360T>G MANE Select | NP_001130000.1:n.884+360T>G | |
| NM_006216.4:c.884+360T>G | NP_006207.1:n.884+360T>G | |
| NR_073116.2:n.1545+360T>G |