Linked Data
ClinVar Variation Id:
330783
dbSNP Id:
rs2515401
gnomAD v2:
2-113820476-T-C
gnomAD v3:
2-113062899-T-C
gnomAD v4:
2-113062899-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113062899T>C , CM000664.2:g.113062899T>C | GRCh38 |
| NC_000002.11:g.113820476T>C , CM000664.1:g.113820476T>C | GRCh37 |
| NC_000002.10:g.113536947T>C | NCBI36 |
| NG_031864.1:g.9262T>C , LRG_730:g.9262T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393200.7:c.*222T>C MANE Select | ENSP00000376896.2:n.*222T>C | |
| ENST00000346807.7:c.*222T>C | ENSP00000259212.3:n.*222T>C | |
| ENST00000393200.6:c.*222T>C | ENSP00000376896.2:n.*222T>C | |
| ENST00000514072.1:c.207+173T>C | ||
| NM_012275.2:c.*222T>C , LRG_730t2:c.*222T>C | NP_036407.1:n.*222T>C | |
| NM_173170.1:c.*222T>C , LRG_730t1:c.*222T>C | NP_775262.1:n.*222T>C | |
| NM_012275.3:c.*222T>C MANE Select | NP_036407.1:n.*222T>C |