gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00374434 (AFR)
Genomes Max Group AF
0.00374434 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156765053A>G , CM000667.2:g.156765053A>G | GRCh38 |
| NC_000005.9:g.156192064A>G , CM000667.1:g.156192064A>G | GRCh37 |
| NC_000005.8:g.156124642A>G | NCBI36 |
| NG_008693.2:g.899711A>G , LRG_205:g.899711A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.*5663A>G MANE Select | ENSP00000338343.4:n.*5663A>G | |
| ENST00000435422.7:c.*5663A>G | ENSP00000403003.2:n.*5663A>G | |
| NM_000337.5:c.*5663A>G , LRG_205t1:c.*5663A>G | NP_000328.2:n.*5663A>G | |
| NM_001128209.1:c.*5663A>G | NP_001121681.1:n.*5663A>G | |
| XM_005265966.3:c.*5663A>G | XP_005266023.1:n.*5663A>G | |
| XM_006714911.2:c.*5663A>G | XP_006714974.1:n.*5663A>G | |
| XM_011534621.1:c.*5663A>G | XP_011532923.1:n.*5663A>G | |
| NM_001128209.2:c.*5663A>G | NP_001121681.1:n.*5663A>G | |
| NM_000337.6:c.*5663A>G MANE Select | NP_000328.2:n.*5663A>G |