Linked Data
dbSNP Id:
rs1227109076
gnomAD v2:
11-8111658-C-A
gnomAD v3:
11-8090111-C-A
gnomAD v4:
11-8090111-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090111C>A , CM000673.2:g.8090111C>A | GRCh38 |
| NC_000011.9:g.8111658C>A , CM000673.1:g.8111658C>A | GRCh37 |
| NC_000011.8:g.8068234C>A | NCBI36 |
| NG_029912.1:g.56479C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.133C>A MANE Select | ENSP00000299506.3:p.Pro45Thr | |
| ENST00000299506.2:c.133C>A | ENSP00000299506.2:p.Pro45Thr | |
| ENST00000305253.8:c.298C>A | ENSP00000305426.4:p.Pro100Thr | |
| ENST00000534099.5:c.151C>A | ENSP00000434400.1:p.Pro51Thr | |
| NM_003320.4:c.298C>A | NP_003311.2:p.Pro100Thr | |
| NM_177972.2:c.133C>A | NP_813977.1:p.Pro45Thr | |
| XM_005253109.2:c.259C>A | XP_005253166.1:p.Pro87Thr | |
| XM_011520344.1:c.169C>A | XP_011518646.1:p.Pro57Thr | |
| XM_005253109.3:c.259C>A | XP_005253166.1:p.Pro87Thr | |
| XM_011520344.2:c.169C>A | XP_011518646.1:p.Pro57Thr | |
| NM_177972.3:c.133C>A MANE Select | NP_813977.1:p.Pro45Thr | |
| NM_003320.5:c.298C>A | NP_003311.2:p.Pro100Thr |