Linked Data
ClinVar Variation Id:
2664466
ClinVar RCV Id:
RCV003447426
dbSNP Id:
rs72466486
PubMed:
PMID:20945553
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74378065T>G , CM000664.2:g.74378065T>G | GRCh38 |
| NC_000002.11:g.74605192T>G , CM000664.1:g.74605192T>G | GRCh37 |
| NC_000002.10:g.74458700T>G | NCBI36 |
| NG_008735.2:g.19023A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361874.8:c.214A>C | ENSP00000354791.4:p.Thr72Pro | |
| ENST00000628224.3:c.214A>C MANE Select | ENSP00000487279.2:p.Thr72Pro | |
| ENST00000680606.1:c.163A>C | ENSP00000505612.1:p.Thr55Pro | |
| ENST00000361874.7:c.214A>C | ENSP00000354791.3:p.Thr72Pro | |
| ENST00000394003.7:c.214A>C | ENSP00000377571.3:p.Thr72Pro | |
| ENST00000409240.5:c.163A>C | ENSP00000386406.1:p.Thr55Pro | |
| ENST00000409567.7:c.214A>C | ENSP00000386843.3:p.Thr72Pro | |
| ENST00000409868.5:c.163A>C | ENSP00000387327.1:p.Thr55Pro | |
| ENST00000413111.5:c.163A>C | ENSP00000413268.1:p.Thr55Pro | |
| ENST00000417090.1:c.226A>C | ENSP00000402509.1:p.Thr76Pro | |
| ENST00000421392.1:c.163A>C | ENSP00000409363.1:p.Thr55Pro | |
| ENST00000434055.5:c.163A>C | ENSP00000416711.1:p.Thr55Pro | |
| ENST00000437375.1:c.163A>C | ENSP00000395312.1:p.Thr55Pro | |
| ENST00000440727.1:c.163A>C | ENSP00000400059.1:p.Thr55Pro | |
| ENST00000454119.5:c.163A>C | ENSP00000404038.1:p.Thr55Pro | |
| ENST00000458655.5:c.235A>C | ENSP00000414315.1:p.Thr79Pro | |
| ENST00000628224.2:c.163A>C | ENSP00000487279.1:p.Thr55Pro | |
| NM_001135040.2:c.214A>C | NP_001128512.1:p.Thr72Pro | |
| NM_001190836.1:c.163A>C | NP_001177765.1:p.Thr55Pro | |
| NM_001190837.1:c.214A>C | NP_001177766.1:p.Thr72Pro | |
| NM_004082.4:c.214A>C | NP_004073.2:p.Thr72Pro | |
| NR_033935.1:n.475A>C | ||
| NM_001135040.3:c.214A>C | NP_001128512.1:p.Thr72Pro | |
| NM_001190836.2:c.163A>C | NP_001177765.1:p.Thr55Pro | |
| NM_001190837.2:c.214A>C | NP_001177766.1:p.Thr72Pro | |
| NM_001378991.1:c.163A>C | NP_001365920.1:p.Thr55Pro | |
| NM_001378992.1:c.163A>C | NP_001365921.1:p.Thr55Pro | |
| NM_004082.5:c.214A>C MANE Select | NP_004073.2:p.Thr72Pro | |
| NR_033935.2:n.254A>C |