gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60052193 (AMR)
Genomes Max Group AF
0.60052193 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.167317736T>G , CM000667.2:g.167317736T>G | GRCh38 |
| NC_000005.9:g.166744741T>G , CM000667.1:g.166744741T>G | GRCh37 |
| NC_000005.8:g.166677319T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518659.6:c.226+32673T>G MANE Select | ENSP00000429430.1:n.226+32673T>G | |
| ENST00000695884.1:n.878+32673T>G | ||
| ENST00000518659.5:c.226+32673T>G | ENSP00000429430.1:n.226+32673T>G | |
| NM_001122679.1:c.226+32673T>G | NP_001116151.1:n.226+32673T>G | |
| XM_005265950.1:c.226+32673T>G | XP_005266007.1:n.226+32673T>G | |
| XM_006714897.1:c.226+32673T>G | XP_006714960.1:n.226+32673T>G | |
| XM_011534604.1:c.226+32673T>G | XP_011532906.1:n.226+32673T>G | |
| XM_005265950.2:c.226+32673T>G | XP_005266007.1:n.226+32673T>G | |
| XM_006714897.2:c.226+32673T>G | XP_006714960.1:n.226+32673T>G | |
| XM_011534604.2:c.226+32673T>G | XP_011532906.1:n.226+32673T>G | |
| XM_017009660.1:c.226+32673T>G | XP_016865149.1:n.226+32673T>G | |
| XM_017009661.1:c.226+32673T>G | XP_016865150.1:n.226+32673T>G | |
| XM_017009662.1:c.226+32673T>G | XP_016865151.1:n.226+32673T>G | |
| NM_001122679.2:c.226+32673T>G | NP_001116151.1:n.226+32673T>G | |
| NM_001395460.1:c.226+32673T>G MANE Select | NP_001382389.1:n.226+32673T>G |