gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.83878728C>A , CM000675.2:g.83878728C>A | GRCh38 |
| NC_000013.10:g.84452863C>A , CM000675.1:g.84452863C>A | GRCh37 |
| NC_000013.9:g.83350864C>A | NCBI36 |
| NG_016748.1:g.8666G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674365.1:c.*689G>T MANE Select | ENSP00000501349.1:n.*689G>T | |
| ENST00000377084.3:c.*689G>T | ENSP00000366288.2:n.*689G>T | |
| NM_001281503.1:c.*689G>T | NP_001268432.1:n.*689G>T | |
| NM_052910.2:c.*689G>T | NP_443142.1:n.*689G>T | |
| NM_001281503.2:c.*689G>T MANE Select | NP_001268432.1:n.*689G>T |