gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72334583 (AFR)
Genomes Max Group AF
0.72334583 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1280752T>C , CM000673.2:g.1280752T>C | GRCh38 |
| NC_000011.9:g.1301982T>C , CM000673.1:g.1301982T>C | GRCh37 |
| NC_000011.8:g.1258558T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317204.11:c.611-3499A>G MANE Select | ENSP00000314733.5:n.611-3499A>G | |
| ENST00000263646.11:c.527-3499A>G | ENSP00000263646.6:n.527-3499A>G | |
| ENST00000317204.10:c.611-3499A>G | ENSP00000314733.5:n.611-3499A>G | |
| ENST00000525159.5:c.428-3499A>G | ENSP00000432668.1:n.428-3499A>G | |
| ENST00000527886.5:c.404-3499A>G | ENSP00000434035.1:n.404-3499A>G | |
| ENST00000527938.5:c.184-3499A>G | ENSP00000432778.1:n.184-3499A>G | |
| ENST00000530506.5:c.*235+2531A>G | ENSP00000436393.1:n.*235+2531A>G | |
| ENST00000530541.1:c.461-3499A>G | ENSP00000434494.1:n.461-3499A>G | |
| NM_019009.3:c.611-3499A>G | NP_061882.2:n.611-3499A>G | |
| XM_011520192.1:c.404-3499A>G | XP_011518494.1:n.404-3499A>G | |
| NM_001318512.1:c.461-3499A>G | NP_001305441.1:n.461-3499A>G | |
| NM_001318514.1:c.404-3499A>G | NP_001305443.1:n.404-3499A>G | |
| NM_001318515.1:c.184-3499A>G | NP_001305444.1:n.184-3499A>G | |
| NM_001318516.1:c.428-3499A>G | NP_001305445.1:n.428-3499A>G | |
| XM_017017931.1:c.233-3499A>G | XP_016873420.1:n.233-3499A>G | |
| XR_001747910.2:n.2067-3499A>G | ||
| NM_019009.4:c.611-3499A>G MANE Select | NP_061882.2:n.611-3499A>G | |
| NM_001318512.2:c.461-3499A>G | NP_001305441.1:n.461-3499A>G | |
| NM_001318515.2:c.184-3499A>G | NP_001305444.1:n.184-3499A>G | |
| NM_001318516.2:c.428-3499A>G | NP_001305445.1:n.428-3499A>G | |
| NM_001318514.2:c.404-3499A>G | NP_001305443.1:n.404-3499A>G |