Linked Data
ClinVar Variation Id:
877372
dbSNP Id:
rs142008108
ExAC:
11:64518907 A / G
gnomAD v2:
11-64518907-A-G
gnomAD v3:
11-64751435-A-G
gnomAD v4:
11-64751435-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751435A>G , CM000673.2:g.64751435A>G | GRCh38 |
| NC_000011.9:g.64518907A>G , CM000673.1:g.64518907A>G | GRCh37 |
| NC_000011.8:g.64275483A>G | NCBI36 |
| NG_013018.1:g.14281T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1859T>C MANE Select | ENSP00000164139.3:p.Ile620Thr | |
| ENST00000164139.3:c.1859T>C | ENSP00000164139.3:p.Ile620Thr | |
| ENST00000377432.7:c.1595T>C | ENSP00000366650.3:p.Ile532Thr | |
| ENST00000462303.1:n.183T>C | ||
| NM_001164716.1:c.1595T>C | NP_001158188.1:p.Ile532Thr | |
| NM_005609.2:c.1859T>C | NP_005600.1:p.Ile620Thr | |
| NM_005609.3:c.1859T>C | NP_005600.1:p.Ile620Thr | |
| NM_005609.4:c.1859T>C MANE Select | NP_005600.1:p.Ile620Thr |