Linked Data
ClinVar Variation Id:
639564
ClinVar RCV Id:
RCV000792386
dbSNP Id:
rs1186749135
gnomAD v4:
22-17085229-G-A
MyVariant Identifiers:
chr22:g.17566119G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085229G>A , CM000684.2:g.17085229G>A | GRCh38 |
| NC_000022.10:g.17566119G>A , CM000684.1:g.17566119G>A | GRCh37 |
| NC_000022.9:g.15946119G>A | NCBI36 |
| NG_028257.1:g.5269G>A , LRG_355:g.5269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.138G>A | ENSP00000479970.1:p.Pro46= | |
| ENST00000694948.1:n.236G>A | ||
| ENST00000694949.1:n.233G>A | ||
| ENST00000694950.1:c.218G>A | ||
| ENST00000319363.11:c.138G>A MANE Select | ENSP00000320936.6:p.Pro46= | |
| ENST00000319363.10:c.138G>A | ENSP00000320936.6:p.Pro46= | |
| ENST00000459971.1:n.173G>A | ||
| ENST00000477874.1:n.276G>A | ||
| ENST00000612619.1:c.138G>A | ENSP00000479970.1:p.Pro46= | |
| NM_001289905.1:c.138G>A | NP_001276834.1:p.Pro46= | |
| NM_014339.6:c.138G>A , LRG_355t1:c.138G>A | NP_055154.3:p.Pro46= | |
| NM_014339.7:c.138G>A MANE Select | NP_055154.3:p.Pro46= | |
| NM_001289905.2:c.138G>A | NP_001276834.1:p.Pro46= |