Linked Data
ClinVar Variation Id:
295611
dbSNP Id:
rs568052992
gnomAD v2:
1-220322143-C-A
gnomAD v3:
1-220148801-C-A
gnomAD v4:
1-220148801-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220148801C>A , CM000663.2:g.220148801C>A | GRCh38 |
| NC_000001.10:g.220322143C>A , CM000663.1:g.220322143C>A | GRCh37 |
| NC_000001.9:g.218388766C>A | NCBI36 |
| NG_015837.1:g.128701G>T | |
| NG_041799.1:g.59689C>A | |
| NG_015837.2:g.128701G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358951.7:c.*2450G>T MANE Select | ENSP00000351832.2:n.*2450G>T | |
| ENST00000358951.6:c.*2450G>T | ENSP00000351832.2:n.*2450G>T | |
| NM_012414.3:c.*2450G>T | NP_036546.2:n.*2450G>T | |
| NM_012414.4:c.*2450G>T MANE Select | NP_036546.2:n.*2450G>T |