gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006297 (AFR)
Genomes Max Group AF
0.00006297 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.37670786C>A , CM000668.2:g.37670786C>A | GRCh38 |
| NC_000006.11:g.37638562C>A , CM000668.1:g.37638562C>A | GRCh37 |
| NC_000006.10:g.37746540C>A | NCBI36 |
| NG_051764.1:g.32205G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434837.8:c.68-6680G>T MANE Select | ENSP00000402584.2:n.68-6680G>T | |
| ENST00000650466.1:c.68-6680G>T | ENSP00000498018.1:n.68-6680G>T | |
| ENST00000681439.1:c.-101-6680G>T | ENSP00000506441.1:n.-101-6680G>T | |
| ENST00000681472.1:c.68-6680G>T | ENSP00000506519.1:n.68-6680G>T | |
| ENST00000434837.7:c.68-6680G>T | ENSP00000402584.2:n.68-6680G>T | |
| ENST00000505425.5:c.68-6680G>T | ENSP00000422042.1:n.68-6680G>T | |
| ENST00000515437.5:c.-101-6680G>T | ENSP00000421510.1:n.-101-6680G>T | |
| NM_153487.3:c.68-6680G>T | NP_705691.1:n.68-6680G>T | |
| XM_006715056.2:c.68-6680G>T | XP_006715119.1:n.68-6680G>T | |
| XM_006715057.2:c.68-6680G>T | XP_006715120.1:n.68-6680G>T | |
| XR_926140.1:n.257-6680G>T | ||
| XR_926141.1:n.257-6680G>T | ||
| XR_926142.1:n.257-6680G>T | ||
| XM_006715056.3:c.68-6680G>T | XP_006715119.1:n.68-6680G>T | |
| XM_017010734.1:c.68-6680G>T | XP_016866223.1:n.68-6680G>T | |
| XR_926140.2:n.191-6680G>T | ||
| XR_926141.2:n.191-6680G>T | ||
| XR_926142.2:n.191-6680G>T | ||
| NM_153487.4:c.68-6680G>T MANE Select | NP_705691.1:n.68-6680G>T |