Linked Data
ClinVar Variation Id:
1131798
dbSNP Id:
rs1011002628
gnomAD v3:
8-43122457-A-C
gnomAD v4:
8-43122457-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43122457A>C , CM000670.2:g.43122457A>C | GRCh38 |
| NC_000008.10:g.42977600A>C , CM000670.1:g.42977600A>C | GRCh37 |
| NC_000008.9:g.43096757A>C | NCBI36 |
| NG_033235.1:g.33952A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.633A>C MANE Select | ENSP00000331258.5:p.Thr211= | |
| ENST00000614426.2:c.*429A>C | ENSP00000478821.2:n.*429A>C | |
| ENST00000674646.1:c.351A>C | ENSP00000501703.1:p.Thr117= | |
| ENST00000674676.1:c.351A>C | ENSP00000502544.1:p.Thr117= | |
| ENST00000674782.1:c.*553A>C | ENSP00000501683.1:n.*553A>C | |
| ENST00000674937.1:c.591A>C | ENSP00000501823.1:p.Thr197= | |
| ENST00000675322.1:c.351A>C | ENSP00000502235.1:p.Thr117= | |
| ENST00000675675.1:c.351A>C | ENSP00000501793.1:p.Thr117= | |
| ENST00000676178.1:c.*418A>C | ENSP00000502007.1:n.*418A>C | |
| ENST00000676193.1:c.633A>C | ENSP00000502774.1:p.Thr211= | |
| ENST00000331373.9:c.633A>C | ENSP00000331258.5:p.Thr211= | |
| ENST00000614426.1:c.633A>C | ENSP00000478821.1:p.Thr211= | |
| NM_001277971.1:c.633A>C | NP_001264900.1:p.Thr211= | |
| NM_032237.4:c.633A>C | NP_115613.1:p.Thr211= | |
| XM_011544668.1:c.633A>C | XP_011542970.1:p.Thr211= | |
| XM_011544669.1:c.633A>C | XP_011542971.1:p.Thr211= | |
| NM_032237.5:c.633A>C MANE Select | NP_115613.1:p.Thr211= | |
| NM_001277971.2:c.633A>C | NP_001264900.1:p.Thr211= |