Linked Data
ClinVar Variation Id:
1149876
ClinVar RCV Id:
RCV001490272
dbSNP Id:
rs1188361528
gnomAD v4:
22-17085175-G-T
MyVariant Identifiers:
chr22:g.17566065G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085175G>T , CM000684.2:g.17085175G>T | GRCh38 |
| NC_000022.10:g.17566065G>T , CM000684.1:g.17566065G>T | GRCh37 |
| NC_000022.9:g.15946065G>T | NCBI36 |
| NG_028257.1:g.5215G>T , LRG_355:g.5215G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.84G>T | ENSP00000479970.1:p.Pro28= | |
| ENST00000694948.1:n.182G>T | ||
| ENST00000694949.1:n.179G>T | ||
| ENST00000694950.1:c.164G>T | ||
| ENST00000319363.11:c.84G>T MANE Select | ENSP00000320936.6:p.Pro28= | |
| ENST00000319363.10:c.84G>T | ENSP00000320936.6:p.Pro28= | |
| ENST00000459971.1:n.119G>T | ||
| ENST00000477874.1:n.222G>T | ||
| ENST00000612619.1:c.84G>T | ENSP00000479970.1:p.Pro28= | |
| NM_001289905.1:c.84G>T | NP_001276834.1:p.Pro28= | |
| NM_014339.6:c.84G>T , LRG_355t1:c.84G>T | NP_055154.3:p.Pro28= | |
| NM_014339.7:c.84G>T MANE Select | NP_055154.3:p.Pro28= | |
| NM_001289905.2:c.84G>T | NP_001276834.1:p.Pro28= |