gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40692799 (NFE)
Genomes Max Group AF
0.40692799 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.40514656T>C , CM000683.2:g.40514656T>C | GRCh38 |
| NC_000021.8:g.41886583T>C , CM000683.1:g.41886583T>C | GRCh37 |
| NC_000021.7:g.40808453T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400454.6:c.509-145411A>G MANE Select | ENSP00000383303.1:n.509-145411A>G | |
| ENST00000400454.5:c.509-145411A>G | ENSP00000383303.1:n.509-145411A>G | |
| NM_001271534.1:c.509-145411A>G | NP_001258463.1:n.509-145411A>G | |
| NM_001389.3:c.509-145411A>G | NP_001380.2:n.509-145411A>G | |
| NR_073202.1:n.961-145411A>G | ||
| XM_011529480.1:c.521-145411A>G | XP_011527782.1:n.521-145411A>G | |
| NM_001271534.2:c.509-145411A>G | NP_001258463.1:n.509-145411A>G | |
| NM_001389.4:c.509-145411A>G | NP_001380.2:n.509-145411A>G | |
| NR_073202.2:n.987-145411A>G | ||
| NM_001389.5:c.509-145411A>G MANE Select | NP_001380.2:n.509-145411A>G | |
| NM_001271534.3:c.509-145411A>G | NP_001258463.1:n.509-145411A>G | |
| NR_073202.3:n.1006-145411A>G |