Linked Data
ClinVar Variation Id:
1557482
dbSNP Id:
rs1407180803
gnomAD v2:
1-218520083-C-T
gnomAD v3:
1-218346741-C-T
gnomAD v4:
1-218346741-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218346741C>T , CM000663.2:g.218346741C>T | GRCh38 |
| NC_000001.10:g.218520083C>T , CM000663.1:g.218520083C>T | GRCh37 |
| NC_000001.9:g.216586706C>T | NCBI36 |
| NG_027721.1:g.6408C>T | |
| NG_027721.2:g.6408C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.40C>T MANE Select | ENSP00000355897.4:p.Leu14= | |
| ENST00000366929.4:c.40C>T | ENSP00000355896.4:p.Leu14= | |
| ENST00000366930.8:c.40C>T | ENSP00000355897.4:p.Leu14= | |
| NM_001135599.2:c.40C>T | NP_001129071.1:p.Leu14= | |
| NM_003238.3:c.40C>T | NP_003229.1:p.Leu14= | |
| NM_001135599.3:c.40C>T | NP_001129071.1:p.Leu14= | |
| NM_003238.4:c.40C>T | NP_003229.1:p.Leu14= | |
| NR_138148.1:n.1458C>T | ||
| NR_138149.1:n.1458C>T | ||
| NM_003238.5:c.40C>T | NP_003229.1:p.Leu14= | |
| NM_003238.6:c.40C>T MANE Select | NP_003229.1:p.Leu14= | |
| NM_001135599.4:c.40C>T | NP_001129071.1:p.Leu14= | |
| NR_138148.2:n.1406C>T | ||
| NR_138149.2:n.1406C>T |