Linked Data
dbSNP Id:
rs1465534385
gnomAD v2:
1-229568506-A-G
gnomAD v3:
1-229432759-A-G
gnomAD v4:
1-229432759-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432759A>G , CM000663.2:g.229432759A>G | GRCh38 |
| NC_000001.10:g.229568506A>G , CM000663.1:g.229568506A>G | GRCh37 |
| NC_000001.9:g.227635129A>G | NCBI36 |
| NG_006672.1:g.6338T>C , LRG_429:g.6338T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.251T>C | ENSP00000355644.4:p.Met84Thr | |
| ENST00000684723.1:c.116T>C | ENSP00000508084.1:p.Met39Thr | |
| ENST00000366683.3:c.251T>C | ENSP00000355644.3:p.Met84Thr | |
| ENST00000366684.7:c.251T>C MANE Select | ENSP00000355645.3:p.Met84Thr | |
| NM_001100.3:c.251T>C , LRG_429t1:c.251T>C | NP_001091.1:p.Met84Thr | |
| NM_001100.4:c.251T>C MANE Select | NP_001091.1:p.Met84Thr |