Linked Data
dbSNP Id:
rs369311753
gnomAD v2:
1-193221061-T-C
gnomAD v3:
1-193251931-T-C
gnomAD v4:
1-193251931-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251931T>C , CM000663.2:g.193251931T>C | GRCh38 |
| NC_000001.10:g.193221061T>C , CM000663.1:g.193221061T>C | GRCh37 |
| NC_000001.9:g.191487684T>C | NCBI36 |
| NG_012691.1:g.134974T>C , LRG_507:g.134974T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*1219T>C MANE Select | ENSP00000356405.4:n.*1219T>C | |
| ENST00000635846.1:c.*1219T>C | ENSP00000490035.1:n.*1219T>C | |
| ENST00000643006.1:c.*1725T>C | ENSP00000496633.1:n.*1725T>C | |
| ENST00000367435.3:c.*1219T>C | ENSP00000356405.3:n.*1219T>C | |
| NM_024529.4:c.*1219T>C , LRG_507t1:c.*1219T>C | NP_078805.3:n.*1219T>C | |
| NM_024529.5:c.*1219T>C MANE Select | NP_078805.3:n.*1219T>C |