Linked Data
dbSNP Id:
rs754552784
gnomAD v2:
1-193220824-T-C
gnomAD v3:
1-193251694-T-C
gnomAD v4:
1-193251694-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251694T>C , CM000663.2:g.193251694T>C | GRCh38 |
| NC_000001.10:g.193220824T>C , CM000663.1:g.193220824T>C | GRCh37 |
| NC_000001.9:g.191487447T>C | NCBI36 |
| NG_012691.1:g.134737T>C , LRG_507:g.134737T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*982T>C MANE Select | ENSP00000356405.4:n.*982T>C | |
| ENST00000635846.1:c.*982T>C | ENSP00000490035.1:n.*982T>C | |
| ENST00000643006.1:c.*1488T>C | ENSP00000496633.1:n.*1488T>C | |
| ENST00000367435.3:c.*982T>C | ENSP00000356405.3:n.*982T>C | |
| NM_024529.4:c.*982T>C , LRG_507t1:c.*982T>C | NP_078805.3:n.*982T>C | |
| NM_024529.5:c.*982T>C MANE Select | NP_078805.3:n.*982T>C |