Linked Data
dbSNP Id:
rs569809284
gnomAD v2:
17-4637709-G-T
gnomAD v3:
17-4734414-G-T
gnomAD v4:
17-4734414-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734414G>T , CM000679.2:g.4734414G>T | GRCh38 |
| NC_000017.10:g.4637709G>T , CM000679.1:g.4637709G>T | GRCh37 |
| NC_000017.9:g.4584458G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*89C>A MANE Select | ENSP00000293778.7:n.*89C>A | |
| ENST00000574412.6:c.*192C>A | ENSP00000459592.2:n.*192C>A | |
| ENST00000293778.10:c.*89C>A | ENSP00000293778.6:n.*89C>A | |
| ENST00000574412.5:c.*192C>A | ENSP00000459592.1:n.*192C>A | |
| ENST00000576153.5:n.645C>A | ||
| NM_022059.3:c.*89C>A | NP_071342.2:n.*89C>A | |
| NM_022059.4:c.*89C>A | NP_071342.2:n.*89C>A | |
| NM_001386809.1:c.*89C>A MANE Select | NP_001373738.1:n.*89C>A |