Linked Data
ClinVar Variation Id:
343154
dbSNP Id:
rs141622970
gnomAD v2:
3-128445114-C-G
gnomAD v3:
3-128726271-C-G
gnomAD v4:
3-128726271-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128726271C>G , CM000665.2:g.128726271C>G | GRCh38 |
| NC_000003.11:g.128445114C>G , CM000665.1:g.128445114C>G | GRCh37 |
| NC_000003.10:g.129927804C>G | NCBI36 |
| NG_008070.1:g.5136C>G , LRG_266:g.5136C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265062.8:c.-97C>G MANE Select | ENSP00000265062.3:n.-97C>G | |
| ENST00000490093.6:c.-97C>G | ENSP00000418955.2:n.-97C>G | |
| ENST00000493186.6:c.-97C>G | ENSP00000417189.1:n.-97C>G | |
| ENST00000674748.1:c.-108C>G | ENSP00000502224.1:n.-108C>G | |
| ENST00000675342.1:c.-254C>G | ENSP00000502486.1:n.-254C>G | |
| ENST00000675712.1:n.136C>G | ||
| ENST00000675864.1:c.-97C>G | ENSP00000502566.1:n.-97C>G | |
| ENST00000676214.1:c.-9+32479C>G | ENSP00000501618.1:n.-9+32479C>G | |
| ENST00000676425.1:c.-97C>G | ENSP00000502084.1:n.-97C>G | |
| ENST00000265062.7:c.-97C>G | ENSP00000265062.3:n.-97C>G | |
| ENST00000482525.5:c.-97C>G | ENSP00000417668.1:n.-97C>G | |
| NM_004637.5:c.-97C>G , LRG_266t1:c.-97C>G | NP_004628.4:n.-97C>G | |
| XR_002959582.1:n.136C>G | ||
| NM_004637.6:c.-97C>G MANE Select | NP_004628.4:n.-97C>G |