gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57954737 (NFE)
Genomes Max Group AF
0.57954737 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.158813937T>C , CM000664.2:g.158813937T>C | GRCh38 |
| NC_000002.11:g.159670449T>C , CM000664.1:g.159670449T>C | GRCh37 |
| NC_000002.10:g.159378695T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309950.8:c.208-1768T>C MANE Select | ENSP00000309538.4:n.208-1768T>C | |
| ENST00000309950.7:c.208-1768T>C | ENSP00000309538.3:n.208-1768T>C | |
| ENST00000343761.4:c.133+6822T>C | ||
| ENST00000409042.5:c.207+6822T>C | ENSP00000386422.1:n.207+6822T>C | |
| ENST00000619477.4:c.207+6822T>C | ENSP00000479225.1:n.207+6822T>C | |
| ENST00000621326.4:c.327-1768T>C | ENSP00000479872.1:n.327-1768T>C | |
| NM_001017920.2:c.208-1768T>C | NP_001017920.2:n.208-1768T>C | |
| XM_011512167.1:c.207+6822T>C | XP_011510469.1:n.207+6822T>C | |
| NM_001017920.3:c.208-1768T>C MANE Select | NP_001017920.2:n.208-1768T>C |