gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992989C>T , CM000670.2:g.16992989C>T | GRCh38 |
| NC_000008.10:g.16850498C>T , CM000670.1:g.16850498C>T | GRCh37 |
| NC_000008.9:g.16894869C>T | NCBI36 |
| NG_015978.1:g.14177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*83G>A MANE Select | ENSP00000180166.5:n.*83G>A | |
| ENST00000180166.5:c.*83G>A | ENSP00000180166.5:n.*83G>A | |
| ENST00000519941.1:c.423G>A | ||
| NM_019851.2:c.*83G>A | NP_062825.1:n.*83G>A | |
| NM_019851.3:c.*83G>A MANE Select | NP_062825.1:n.*83G>A |