Linked Data
dbSNP Id:
rs1490886241
gnomAD v2:
17-4637765-G-C
gnomAD v3:
17-4734470-G-C
gnomAD v4:
17-4734470-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4734470G>C , CM000679.2:g.4734470G>C | GRCh38 |
| NC_000017.10:g.4637765G>C , CM000679.1:g.4637765G>C | GRCh37 |
| NC_000017.9:g.4584514G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293778.12:c.*33C>G MANE Select | ENSP00000293778.7:n.*33C>G | |
| ENST00000574412.6:c.*136C>G | ENSP00000459592.2:n.*136C>G | |
| ENST00000293778.10:c.*33C>G | ENSP00000293778.6:n.*33C>G | |
| ENST00000574412.5:c.*136C>G | ENSP00000459592.1:n.*136C>G | |
| ENST00000576153.5:n.589C>G | ||
| NM_022059.3:c.*33C>G | NP_071342.2:n.*33C>G | |
| NM_022059.4:c.*33C>G | NP_071342.2:n.*33C>G | |
| NM_001386809.1:c.*33C>G MANE Select | NP_001373738.1:n.*33C>G |