Linked Data
ClinVar Variation Id:
364895
dbSNP Id:
rs113846301
gnomAD v2:
9-129458857-C-T
gnomAD v3:
9-126696578-C-T
gnomAD v4:
9-126696578-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126696578C>T , CM000671.2:g.126696578C>T | GRCh38 |
| NC_000009.11:g.129458857C>T , CM000671.1:g.129458857C>T | GRCh37 |
| NC_000009.10:g.128498678C>T | NCBI36 |
| NG_017039.1:g.87136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.*127C>T | ENSP00000347684.5:n.*127C>T | |
| ENST00000373474.9:c.*127C>T MANE Select | ENSP00000362573.3:n.*127C>T | |
| ENST00000526117.6:c.*127C>T | ENSP00000436930.1:n.*127C>T | |
| ENST00000355497.9:c.*127C>T | ENSP00000347684.5:n.*127C>T | |
| ENST00000373474.8:c.*127C>T | ENSP00000362573.3:n.*127C>T | |
| NM_001174146.1:c.*127C>T | NP_001167617.1:n.*127C>T | |
| NM_001174147.1:c.*127C>T | NP_001167618.1:n.*127C>T | |
| NM_002316.3:c.*127C>T | NP_002307.2:n.*127C>T | |
| NM_001174146.2:c.*127C>T | NP_001167617.1:n.*127C>T | |
| NM_001174147.2:c.*127C>T MANE Select | NP_001167618.1:n.*127C>T | |
| NM_002316.4:c.*127C>T | NP_002307.2:n.*127C>T |