gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2717922C>T , CM000671.2:g.2717922C>T | GRCh38 |
| NC_000009.11:g.2717922C>T , CM000671.1:g.2717922C>T | GRCh37 |
| NC_000009.10:g.2707922C>T | NCBI36 |
| NG_012181.1:g.5397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382082.4:c.183C>T MANE Select | ENSP00000371514.3:p.Gly61= | |
| ENST00000382082.3:c.183C>T | ENSP00000371514.3:p.Gly61= | |
| NM_133497.3:c.183C>T | NP_598004.1:p.Gly61= | |
| XR_929202.1:n.684C>T | ||
| XR_929203.1:n.684C>T | ||
| NM_133497.4:c.183C>T MANE Select | NP_598004.1:p.Gly61= |