Linked Data
ClinVar Variation Id:
1122271
dbSNP Id:
rs1160145790
gnomAD v2:
1-193111076-T-C
gnomAD v3:
1-193141946-T-C
gnomAD v4:
1-193141946-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193141946T>C , CM000663.2:g.193141946T>C | GRCh38 |
| NC_000001.10:g.193111076T>C , CM000663.1:g.193111076T>C | GRCh37 |
| NC_000001.9:g.191377699T>C | NCBI36 |
| NG_012691.1:g.24989T>C , LRG_507:g.24989T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.609T>C MANE Select | ENSP00000356405.4:p.Asp203= | |
| ENST00000635846.1:c.609T>C | ENSP00000490035.1:p.Asp203= | |
| ENST00000643006.1:c.609T>C | ENSP00000496633.1:p.Asp203= | |
| ENST00000643784.1:c.*85T>C | ENSP00000494944.1:n.*85T>C | |
| ENST00000647662.1:n.510T>C | ||
| ENST00000648071.1:c.*585T>C | ENSP00000497513.1:n.*585T>C | |
| ENST00000649606.1:n.622T>C | ||
| ENST00000649706.1:n.550T>C | ||
| ENST00000649895.1:n.827T>C | ||
| ENST00000650197.1:c.609T>C | ENSP00000496929.1:p.Asp203= | |
| ENST00000367435.3:c.609T>C | ENSP00000356405.3:p.Asp203= | |
| NM_024529.4:c.609T>C , LRG_507t1:c.609T>C | NP_078805.3:p.Asp203= | |
| XM_006711537.2:c.609T>C | XP_006711600.1:p.Asp203= | |
| XM_006711537.4:c.609T>C | XP_006711600.1:p.Asp203= | |
| NM_024529.5:c.609T>C MANE Select | NP_078805.3:p.Asp203= |