gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20637835A>T , CM000663.2:g.20637835A>T | GRCh38 |
| NC_000001.10:g.20964328A>T , CM000663.1:g.20964328A>T | GRCh37 |
| NC_000001.9:g.20836915A>T | NCBI36 |
| NG_008164.1:g.9381A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.388-7A>T MANE Select | ENSP00000364204.3:n.388-7A>T | |
| ENST00000321556.4:c.388-7A>T | ENSP00000364204.3:n.388-7A>T | |
| NM_032409.2:c.388-7A>T | NP_115785.1:n.388-7A>T | |
| NM_032409.3:c.388-7A>T MANE Select | NP_115785.1:n.388-7A>T |