Linked Data
ClinVar Variation Id:
446454
dbSNP Id:
rs1554360358
gnomAD v4:
7-107698076-A-C
PubMed:
PMID:24105851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107698076A>C , CM000669.2:g.107698076A>C | GRCh38 |
| NC_000007.13:g.107338521A>C , CM000669.1:g.107338521A>C | GRCh37 |
| NC_000007.12:g.107125757A>C | NCBI36 |
| NG_008489.1:g.42442A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1579A>C MANE Select | ENSP00000494017.1:p.Thr527Pro | |
| ENST00000644846.1:c.290A>C | ||
| ENST00000265715.7:c.1579A>C | ENSP00000265715.3:p.Thr527Pro | |
| ENST00000477350.5:n.426A>C | ||
| ENST00000480841.5:n.428A>C | ||
| NM_000441.1:c.1579A>C | NP_000432.1:p.Thr527Pro | |
| XM_005250425.1:c.1579A>C | XP_005250482.1:p.Thr527Pro | |
| XM_005250425.2:c.1579A>C | XP_005250482.1:p.Thr527Pro | |
| XM_017012318.1:c.1501A>C | XP_016867807.1:p.Thr501Pro | |
| NM_000441.2:c.1579A>C MANE Select | NP_000432.1:p.Thr527Pro |