Linked Data
ClinVar Variation Id:
784362
ClinVar RCV Id:
RCV000966034
dbSNP Id:
rs55772214
ExAC:
17:64224220 C / A
gnomAD v2:
17-64224220-C-A
gnomAD v3:
17-66228102-C-A
gnomAD v4:
17-66228102-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228102C>A , CM000679.2:g.66228102C>A | GRCh38 |
| NC_000017.10:g.64224220C>A , CM000679.1:g.64224220C>A | GRCh37 |
| NC_000017.9:g.61654682C>A | NCBI36 |
| NG_012045.1:g.6337G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.159G>T MANE Select | ENSP00000205948.6:p.Pro53= | |
| ENST00000205948.10:c.159G>T | ENSP00000205948.6:p.Pro53= | |
| ENST00000577982.1:c.159G>T | ENSP00000464301.1:p.Pro53= | |
| ENST00000581797.5:c.-22G>T | ENSP00000463553.1:n.-22G>T | |
| NM_000042.2:c.159G>T | NP_000033.2:p.Pro53= | |
| NM_000042.3:c.159G>T MANE Select | NP_000033.2:p.Pro53= |