Linked Data
dbSNP Id:
rs769436518
gnomAD v2:
11-8111691-C-A
gnomAD v3:
11-8090144-C-A
gnomAD v4:
11-8090144-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090144C>A , CM000673.2:g.8090144C>A | GRCh38 |
| NC_000011.9:g.8111691C>A , CM000673.1:g.8111691C>A | GRCh37 |
| NC_000011.8:g.8068267C>A | NCBI36 |
| NG_029912.1:g.56512C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.166C>A MANE Select | ENSP00000299506.3:p.Pro56Thr | |
| ENST00000299506.2:c.166C>A | ENSP00000299506.2:p.Pro56Thr | |
| ENST00000305253.8:c.331C>A | ENSP00000305426.4:p.Pro111Thr | |
| ENST00000534099.5:c.184C>A | ENSP00000434400.1:p.Pro62Thr | |
| NM_003320.4:c.331C>A | NP_003311.2:p.Pro111Thr | |
| NM_177972.2:c.166C>A | NP_813977.1:p.Pro56Thr | |
| XM_005253109.2:c.292C>A | XP_005253166.1:p.Pro98Thr | |
| XM_011520344.1:c.202C>A | XP_011518646.1:p.Pro68Thr | |
| XM_005253109.3:c.292C>A | XP_005253166.1:p.Pro98Thr | |
| XM_011520344.2:c.202C>A | XP_011518646.1:p.Pro68Thr | |
| NM_177972.3:c.166C>A MANE Select | NP_813977.1:p.Pro56Thr | |
| NM_003320.5:c.331C>A | NP_003311.2:p.Pro111Thr |