Linked Data
ClinVar Variation Id:
2532671
ClinVar RCV Id:
RCV004308211
dbSNP Id:
rs368998654
gnomAD v3:
4-2497067-A-C
gnomAD v4:
4-2497067-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2497067A>C , CM000666.2:g.2497067A>C | GRCh38 |
| NC_000004.11:g.2498794A>C , CM000666.1:g.2498794A>C | GRCh37 |
| NC_000004.10:g.2468592A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314289.13:c.70A>C MANE Select | ENSP00000315212.8:p.Thr24Pro | |
| ENST00000314289.12:c.70A>C | ENSP00000315212.8:p.Thr24Pro | |
| ENST00000502316.5:c.70A>C | ENSP00000423100.1:p.Thr24Pro | |
| ENST00000503123.5:n.262A>C | ||
| ENST00000504224.5:c.70A>C | ENSP00000425667.1:p.Thr24Pro | |
| ENST00000506706.5:c.70A>C | ENSP00000424076.1:p.Thr24Pro | |
| ENST00000507247.5:c.70A>C | ENSP00000422728.1:p.Thr24Pro | |
| ENST00000507784.5:n.349A>C | ||
| ENST00000509206.1:n.478A>C | ||
| ENST00000509258.5:c.70A>C | ENSP00000422500.1:p.Thr24Pro | |
| ENST00000509388.5:n.216A>C | ||
| ENST00000511600.5:c.70A>C | ENSP00000426503.1:p.Thr24Pro | |
| ENST00000511843.5:n.289A>C | ||
| ENST00000511859.5:c.70A>C | ENSP00000426615.1:p.Thr24Pro | |
| ENST00000511892.5:n.535A>C | ||
| ENST00000513284.5:c.70A>C | ENSP00000425724.1:p.Thr24Pro | |
| ENST00000513450.1:c.70A>C | ENSP00000422619.1:p.Thr24Pro | |
| ENST00000513578.5:c.70A>C | ENSP00000422938.1:p.Thr24Pro | |
| ENST00000513643.5:n.267-3592A>C | ||
| ENST00000541204.5:c.70A>C | ENSP00000446369.2:p.Thr24Pro | |
| NM_001185009.2:c.70A>C | NP_001171938.1:p.Thr24Pro | |
| NM_001185010.2:c.70A>C | NP_001171939.1:p.Thr24Pro | |
| NM_002938.4:c.70A>C | NP_002929.1:p.Thr24Pro | |
| NM_002938.5:c.70A>C MANE Select | NP_002929.1:p.Thr24Pro | |
| NM_001185010.3:c.70A>C | NP_001171939.1:p.Thr24Pro | |
| NM_001185009.3:c.70A>C | NP_001171938.1:p.Thr24Pro |