Linked Data
ClinVar Variation Id:
341306
ClinVar RCV Id:
RCV000317019
dbSNP Id:
rs886057420
gnomAD v4:
22-32475051-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475051C>G , CM000684.2:g.32475051C>G | GRCh38 |
| NC_000022.10:g.32871038C>G , CM000684.1:g.32871038C>G | GRCh37 |
| NC_000022.9:g.31201038C>G | NCBI36 |
| NG_016001.1:g.5332C>G | |
| NG_016001.2:g.5332C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.49C>G MANE Select | ENSP00000266087.7:p.Pro17Ala | |
| ENST00000266087.11:c.49C>G | ENSP00000266087.7:p.Pro17Ala | |
| ENST00000420700.5:c.49C>G | ENSP00000406155.1:p.Pro17Ala | |
| ENST00000425028.5:c.49C>G | ENSP00000395823.1:p.Pro17Ala | |
| ENST00000492535.1:n.37C>G | ||
| NM_012179.3:c.49C>G | NP_036311.3:p.Pro17Ala | |
| XM_011530106.1:c.-125C>G | XP_011528408.1:n.-125C>G | |
| XM_024452207.1:c.-142C>G | XP_024307975.1:n.-142C>G | |
| NM_012179.4:c.49C>G MANE Select | NP_036311.3:p.Pro17Ala |