Linked Data
dbSNP Id:
rs77259875
gnomAD v2:
8-16850259-T-A
gnomAD v3:
8-16992750-T-A
gnomAD v4:
8-16992750-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992750T>A , CM000670.2:g.16992750T>A | GRCh38 |
| NC_000008.10:g.16850259T>A , CM000670.1:g.16850259T>A | GRCh37 |
| NC_000008.9:g.16894630T>A | NCBI36 |
| NG_015978.1:g.14416A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*322A>T MANE Select | ENSP00000180166.5:n.*322A>T | |
| ENST00000180166.5:c.*322A>T | ENSP00000180166.5:n.*322A>T | |
| NM_019851.3:c.*322A>T MANE Select | NP_062825.1:n.*322A>T |