Linked Data
ClinVar Variation Id:
941815
dbSNP Id:
rs761260469
ExAC:
15:73614893 T / G
gnomAD v2:
15-73614893-T-G
gnomAD v4:
15-73322552-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322552T>G , CM000677.2:g.73322552T>G | GRCh38 |
| NC_000015.9:g.73614893T>G , CM000677.1:g.73614893T>G | GRCh37 |
| NC_000015.8:g.71401946T>G | NCBI36 |
| NG_009063.1:g.51713A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3541A>C MANE Select | ENSP00000261917.3:p.Thr1181Pro | |
| ENST00000261917.3:c.3541A>C | ENSP00000261917.3:p.Thr1181Pro | |
| NM_005477.2:c.3541A>C | NP_005468.1:p.Thr1181Pro | |
| XM_011521148.1:c.2323A>C | XP_011519450.1:p.Thr775Pro | |
| XM_011521148.2:c.2323A>C | XP_011519450.1:p.Thr775Pro | |
| NM_005477.3:c.3541A>C MANE Select | NP_005468.1:p.Thr1181Pro |