Linked Data
ClinVar Variation Id:
2071326
ClinVar RCV Id:
RCV002975494
dbSNP Id:
rs940532234
gnomAD v4:
8-43122157-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43122157C>T , CM000670.2:g.43122157C>T | GRCh38 |
| NC_000008.10:g.42977300C>T , CM000670.1:g.42977300C>T | GRCh37 |
| NC_000008.9:g.43096457C>T | NCBI36 |
| NG_033235.1:g.33652C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.333C>T MANE Select | ENSP00000331258.5:p.Thr111= | |
| ENST00000614426.2:c.*129C>T | ENSP00000478821.2:n.*129C>T | |
| ENST00000674646.1:c.51C>T | ENSP00000501703.1:p.Thr17= | |
| ENST00000674676.1:c.51C>T | ENSP00000502544.1:p.Thr17= | |
| ENST00000674782.1:c.*253C>T | ENSP00000501683.1:n.*253C>T | |
| ENST00000674937.1:c.291C>T | ENSP00000501823.1:p.Thr97= | |
| ENST00000675322.1:c.51C>T | ENSP00000502235.1:p.Thr17= | |
| ENST00000675675.1:c.51C>T | ENSP00000501793.1:p.Thr17= | |
| ENST00000676178.1:c.*118C>T | ENSP00000502007.1:n.*118C>T | |
| ENST00000676193.1:c.333C>T | ENSP00000502774.1:p.Thr111= | |
| ENST00000331373.9:c.333C>T | ENSP00000331258.5:p.Thr111= | |
| ENST00000518991.5:c.333C>T | ENSP00000429090.1:p.Thr111= | |
| ENST00000614426.1:c.333C>T | ENSP00000478821.1:p.Thr111= | |
| NM_001277971.1:c.333C>T | NP_001264900.1:p.Thr111= | |
| NM_032237.4:c.333C>T | NP_115613.1:p.Thr111= | |
| XM_011544668.1:c.333C>T | XP_011542970.1:p.Thr111= | |
| XM_011544669.1:c.333C>T | XP_011542971.1:p.Thr111= | |
| NM_032237.5:c.333C>T MANE Select | NP_115613.1:p.Thr111= | |
| NM_001277971.2:c.333C>T | NP_001264900.1:p.Thr111= |