Linked Data
ClinVar Variation Id:
2049952
ClinVar RCV Id:
RCV002914277
dbSNP Id:
rs1487756841
gnomAD v2:
22-17566064-C-T
gnomAD v3:
22-17085174-C-T
gnomAD v4:
22-17085174-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085174C>T , CM000684.2:g.17085174C>T | GRCh38 |
| NC_000022.10:g.17566064C>T , CM000684.1:g.17566064C>T | GRCh37 |
| NC_000022.9:g.15946064C>T | NCBI36 |
| NG_028257.1:g.5214C>T , LRG_355:g.5214C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.83C>T | ENSP00000479970.1:p.Pro28Leu | |
| ENST00000694948.1:n.181C>T | ||
| ENST00000694949.1:n.178C>T | ||
| ENST00000694950.1:c.163C>T | ||
| ENST00000319363.11:c.83C>T MANE Select | ENSP00000320936.6:p.Pro28Leu | |
| ENST00000319363.10:c.83C>T | ENSP00000320936.6:p.Pro28Leu | |
| ENST00000459971.1:n.118C>T | ||
| ENST00000477874.1:n.221C>T | ||
| ENST00000612619.1:c.83C>T | ENSP00000479970.1:p.Pro28Leu | |
| NM_001289905.1:c.83C>T | NP_001276834.1:p.Pro28Leu | |
| NM_014339.6:c.83C>T , LRG_355t1:c.83C>T | NP_055154.3:p.Pro28Leu | |
| NM_014339.7:c.83C>T MANE Select | NP_055154.3:p.Pro28Leu | |
| NM_001289905.2:c.83C>T | NP_001276834.1:p.Pro28Leu |