gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37806545T>A , CM000684.2:g.37806545T>A | GRCh38 |
| NC_000022.10:g.38202552T>A , CM000684.1:g.38202552T>A | GRCh37 |
| NC_000022.9:g.36532498T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340857.4:c.*416T>A MANE Select | ENSP00000344504.2:n.*416T>A | |
| ENST00000340857.3:c.*416T>A | ENSP00000344504.2:n.*416T>A | |
| NM_005318.3:c.*416T>A | NP_005309.1:n.*416T>A | |
| NM_005318.4:c.*416T>A MANE Select | NP_005309.1:n.*416T>A |