Linked Data
dbSNP Id:
rs575331782
gnomAD v2:
4-187007110-T-A
gnomAD v3:
4-186085956-T-A
gnomAD v4:
4-186085956-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085956T>A , CM000666.2:g.186085956T>A | GRCh38 |
| NC_000004.11:g.187007110T>A , CM000666.1:g.187007110T>A | GRCh37 |
| NC_000004.10:g.187244104T>A | NCBI36 |
| NG_007278.1:g.21802T>A , LRG_117:g.21802T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3350T>A | ENSP00000513675.1:n.*3350T>A | |
| ENST00000698353.1:n.3673T>A | ||
| ENST00000698354.1:c.*1083T>A | ENSP00000513676.1:n.*1083T>A | |
| ENST00000296795.8:c.*1083T>A MANE Select | ENSP00000296795.3:n.*1083T>A | |
| ENST00000296795.7:c.*1083T>A | ENSP00000296795.2:n.*1083T>A | |
| NM_003265.3:c.*1083T>A MANE Select | NP_003256.1:n.*1083T>A |