Linked Data
ClinVar Variation Id:
180187
ClinVar RCV Id:
RCV000157039
dbSNP Id:
rs730880029
PubMed:
PMID:25374358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219251266T>G , CM000664.2:g.219251266T>G | GRCh38 |
| NC_000002.11:g.220115988T>G , CM000664.1:g.220115988T>G | GRCh37 |
| NC_000002.10:g.219824232T>G | NCBI36 |
| NG_029913.1:g.7651A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427737.6:c.388A>C | ENSP00000408194.1:p.Thr130Pro | |
| ENST00000248437.9:c.433A>C MANE Select | ENSP00000248437.4:p.Thr145Pro | |
| ENST00000248437.8:c.433A>C | ENSP00000248437.4:p.Thr145Pro | |
| ENST00000392088.6:c.388A>C | ENSP00000375938.2:p.Thr130Pro | |
| ENST00000398989.2:c.-27A>C | ENSP00000396212.1:n.-27A>C | |
| ENST00000427737.5:c.388A>C | ENSP00000408194.1:p.Thr130Pro | |
| ENST00000447205.1:c.388A>C | ENSP00000396061.1:p.Thr130Pro | |
| ENST00000456818.5:c.502A>C | ENSP00000416992.1:p.Thr168Pro | |
| ENST00000462806.5:n.732A>C | ||
| ENST00000498660.1:n.253A>C | ||
| NM_001278552.1:c.388A>C | NP_001265481.1:p.Thr130Pro | |
| NM_006000.2:c.433A>C | NP_005991.1:p.Thr145Pro | |
| XM_005246832.1:c.388A>C | XP_005246889.1:p.Thr130Pro | |
| XM_017004824.1:c.-27A>C | XP_016860313.1:n.-27A>C | |
| NM_006000.3:c.433A>C MANE Select | NP_005991.1:p.Thr145Pro | |
| NM_001278552.2:c.388A>C | NP_001265481.1:p.Thr130Pro |