Linked Data
dbSNP Id:
rs369514795
ExAC:
21:47404375 C / T
gnomAD v3:
21-45984461-C-T
gnomAD v4:
21-45984461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984461C>T , CM000683.2:g.45984461C>T | GRCh38 |
| NC_000021.8:g.47404375C>T , CM000683.1:g.47404375C>T | GRCh37 |
| NC_000021.7:g.46228803C>T | NCBI36 |
| NG_008674.1:g.7713C>T , LRG_475:g.7713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.420C>T MANE Select | ENSP00000355180.3:p.Leu140= | |
| ENST00000361866.7:c.420C>T | ENSP00000355180.3:p.Leu140= | |
| ENST00000612273.1:c.420C>T | ENSP00000483630.1:p.Leu140= | |
| NM_001848.2:c.420C>T , LRG_475t1:c.420C>T | NP_001839.2:p.Leu140= | |
| NM_001848.3:c.420C>T MANE Select | NP_001839.2:p.Leu140= |