Linked Data
ClinVar Variation Id:
497881
dbSNP Id:
rs200060245
gnomAD v2:
2-219677122-C-T
gnomAD v3:
2-218812399-C-T
gnomAD v4:
2-218812399-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812399C>T , CM000664.2:g.218812399C>T | GRCh38 |
| NC_000002.11:g.219677122C>T , CM000664.1:g.219677122C>T | GRCh37 |
| NC_000002.10:g.219385366C>T | NCBI36 |
| NG_007959.1:g.35651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.624C>T MANE Select | ENSP00000258415.4:p.Leu208= | |
| ENST00000258415.8:c.624C>T | ENSP00000258415.4:p.Leu208= | |
| ENST00000411688.1:c.342C>T | ENSP00000392671.1:p.Leu114= | |
| ENST00000445971.1:c.*85C>T | ENSP00000404945.1:n.*85C>T | |
| ENST00000466602.1:n.442C>T | ||
| ENST00000494263.5:n.1058C>T | ||
| NM_000784.3:c.624C>T | NP_000775.1:p.Leu208= | |
| XM_017003488.2:c.204C>T | XP_016858977.1:p.Leu68= | |
| NM_000784.4:c.624C>T MANE Select | NP_000775.1:p.Leu208= |