Linked Data
ClinVar Variation Id:
1045883
ClinVar RCV Id:
RCV001350362
dbSNP Id:
rs755408952
ExAC:
3:128199942 T / G
gnomAD v2:
3-128199942-T-G
gnomAD v4:
3-128481099-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481099T>G , CM000665.2:g.128481099T>G | GRCh38 |
| NC_000003.11:g.128199942T>G , CM000665.1:g.128199942T>G | GRCh37 |
| NC_000003.10:g.129682632T>G | NCBI36 |
| NG_029334.1:g.17089A>C , LRG_295:g.17089A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1363A>C MANE Plus Clinical | ENSP00000417074.1:p.Thr455Pro | |
| ENST00000696466.1:c.1645A>C | ENSP00000512647.1:p.Thr549Pro | |
| ENST00000696672.1:c.338A>C | ENSP00000512796.1:p.His113Pro | |
| ENST00000341105.7:c.1363A>C MANE Select | ENSP00000345681.2:p.Thr455Pro | |
| ENST00000341105.6:c.1363A>C | ENSP00000345681.2:p.Thr455Pro | |
| ENST00000430265.6:c.1321A>C | ENSP00000400259.2:p.Thr441Pro | |
| ENST00000487848.5:c.1363A>C | ENSP00000417074.1:p.Thr455Pro | |
| ENST00000489987.1:n.480A>C | ||
| NM_001145661.1:c.1363A>C , LRG_295t1:c.1363A>C | NP_001139133.1:p.Thr455Pro | |
| NM_001145662.1:c.1321A>C | NP_001139134.1:p.Thr441Pro | |
| NM_032638.4:c.1363A>C , LRG_295t2:c.1363A>C | NP_116027.2:p.Thr455Pro | |
| NM_001145661.2:c.1363A>C MANE Plus Clinical | NP_001139133.1:p.Thr455Pro | |
| NM_032638.5:c.1363A>C MANE Select | NP_116027.2:p.Thr455Pro |