Linked Data
ClinVar Variation Id:
472049
dbSNP Id:
rs375986462
ExAC:
7:128486114 C / T
gnomAD v2:
7-128486114-C-T
gnomAD v3:
7-128846060-C-T
gnomAD v4:
7-128846060-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128846060C>T , CM000669.2:g.128846060C>T | GRCh38 |
| NC_000007.13:g.128486114C>T , CM000669.1:g.128486114C>T | GRCh37 |
| NC_000007.12:g.128273350C>T | NCBI36 |
| NG_011807.1:g.20632C>T , LRG_870:g.20632C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.3861C>T MANE Select | ENSP00000327145.8:p.His1287= | |
| ENST00000325888.12:c.3861C>T | ENSP00000327145.8:p.His1287= | |
| ENST00000346177.6:c.3861C>T | ENSP00000344002.6:p.His1287= | |
| NM_001127487.1:c.3861C>T | NP_001120959.1:p.His1287= | |
| NM_001458.4:c.3861C>T , LRG_870t1:c.3861C>T | NP_001449.3:p.His1287= | |
| NM_001127487.2:c.3861C>T | NP_001120959.1:p.His1287= | |
| NM_001458.5:c.3861C>T MANE Select | NP_001449.3:p.His1287= |