Linked Data
dbSNP Id:
rs993343144
gnomAD v2:
22-17566063-C-A
gnomAD v3:
22-17085173-C-A
gnomAD v4:
22-17085173-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085173C>A , CM000684.2:g.17085173C>A | GRCh38 |
| NC_000022.10:g.17566063C>A , CM000684.1:g.17566063C>A | GRCh37 |
| NC_000022.9:g.15946063C>A | NCBI36 |
| NG_028257.1:g.5213C>A , LRG_355:g.5213C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.82C>A | ENSP00000479970.1:p.Pro28Thr | |
| ENST00000694948.1:n.180C>A | ||
| ENST00000694949.1:n.177C>A | ||
| ENST00000694950.1:c.162C>A | ||
| ENST00000319363.11:c.82C>A MANE Select | ENSP00000320936.6:p.Pro28Thr | |
| ENST00000319363.10:c.82C>A | ENSP00000320936.6:p.Pro28Thr | |
| ENST00000459971.1:n.117C>A | ||
| ENST00000477874.1:n.220C>A | ||
| ENST00000612619.1:c.82C>A | ENSP00000479970.1:p.Pro28Thr | |
| NM_001289905.1:c.82C>A | NP_001276834.1:p.Pro28Thr | |
| NM_014339.6:c.82C>A , LRG_355t1:c.82C>A | NP_055154.3:p.Pro28Thr | |
| NM_014339.7:c.82C>A MANE Select | NP_055154.3:p.Pro28Thr | |
| NM_001289905.2:c.82C>A | NP_001276834.1:p.Pro28Thr |