Linked Data
ClinVar Variation Id:
1796583
dbSNP Id:
rs199963291
ExAC:
11:116703582 T / C
gnomAD v2:
11-116703582-T-C
gnomAD v3:
11-116832866-T-C
gnomAD v4:
11-116832866-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832866T>C , CM000673.2:g.116832866T>C | GRCh38 |
| NC_000011.9:g.116703582T>C , CM000673.1:g.116703582T>C | GRCh37 |
| NC_000011.8:g.116208792T>C | NCBI36 |
| NG_008949.1:g.7959T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.282T>C MANE Select | ENSP00000227667.2:p.Thr94= | |
| ENST00000227667.7:c.282T>C | ENSP00000227667.2:p.Thr94= | |
| ENST00000375345.3:c.336T>C | ENSP00000364494.1:p.Thr112= | |
| ENST00000630701.1:c.336T>C | ENSP00000486182.1:p.Thr112= | |
| NM_000040.1:c.282T>C | NP_000031.1:p.Thr94= | |
| NM_000040.2:c.282T>C | NP_000031.1:p.Thr94= | |
| NM_000040.3:c.282T>C MANE Select | NP_000031.1:p.Thr94= |