gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4595401 (AFR)
Genomes Max Group AF
0.4595401 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.37653000G>A , CM000668.2:g.37653000G>A | GRCh38 |
| NC_000006.11:g.37620776G>A , CM000668.1:g.37620776G>A | GRCh37 |
| NC_000006.10:g.37728754G>A | NCBI36 |
| NG_051764.1:g.49991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434837.8:c.983-660C>T MANE Select | ENSP00000402584.2:n.983-660C>T | |
| ENST00000650466.1:c.983-660C>T | ENSP00000498018.1:n.983-660C>T | |
| ENST00000681439.1:c.215-660C>T | ENSP00000506441.1:n.215-660C>T | |
| ENST00000681472.1:c.983-660C>T | ENSP00000506519.1:n.983-660C>T | |
| ENST00000434837.7:c.983-660C>T | ENSP00000402584.2:n.983-660C>T | |
| ENST00000478143.2:n.1566-660C>T | ||
| ENST00000505425.5:c.983-660C>T | ENSP00000422042.1:n.983-660C>T | |
| NM_153487.3:c.983-660C>T | NP_705691.1:n.983-660C>T | |
| XM_006715056.2:c.983-660C>T | XP_006715119.1:n.983-660C>T | |
| XM_006715057.2:c.983-660C>T | XP_006715120.1:n.983-660C>T | |
| XR_926140.1:n.1172-660C>T | ||
| XR_926141.1:n.1172-660C>T | ||
| XR_926142.1:n.1172-660C>T | ||
| XM_006715056.3:c.983-660C>T | XP_006715119.1:n.983-660C>T | |
| XM_017010734.1:c.983-660C>T | XP_016866223.1:n.983-660C>T | |
| XR_926140.2:n.1106-660C>T | ||
| XR_926141.2:n.1106-660C>T | ||
| XR_926142.2:n.1106-660C>T | ||
| NM_153487.4:c.983-660C>T MANE Select | NP_705691.1:n.983-660C>T |