Linked Data
ClinVar Variation Id:
330789
dbSNP Id:
rs3180234
gnomAD v2:
2-113820655-A-T
gnomAD v3:
2-113063078-A-T
gnomAD v4:
2-113063078-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113063078A>T , CM000664.2:g.113063078A>T | GRCh38 |
| NC_000002.11:g.113820655A>T , CM000664.1:g.113820655A>T | GRCh37 |
| NC_000002.10:g.113537126A>T | NCBI36 |
| NG_031864.1:g.9441A>T , LRG_730:g.9441A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393200.7:c.*401A>T MANE Select | ENSP00000376896.2:n.*401A>T | |
| ENST00000346807.7:c.*401A>T | ENSP00000259212.3:n.*401A>T | |
| ENST00000393200.6:c.*401A>T | ENSP00000376896.2:n.*401A>T | |
| ENST00000514072.1:c.207+352A>T | ||
| NM_012275.2:c.*401A>T , LRG_730t2:c.*401A>T | NP_036407.1:n.*401A>T | |
| NM_173170.1:c.*401A>T , LRG_730t1:c.*401A>T | NP_775262.1:n.*401A>T | |
| NM_012275.3:c.*401A>T MANE Select | NP_036407.1:n.*401A>T |