Linked Data
ClinVar Variation Id:
374989
dbSNP Id:
rs1057519316
gnomAD v4:
19-1496340-T-C
PubMed:
PMID:27889058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1496340T>C , CM000681.2:g.1496340T>C | GRCh38 |
| NC_000019.9:g.1496339T>C , CM000681.1:g.1496339T>C | GRCh37 |
| NC_000019.8:g.1447339T>C | NCBI36 |
| NG_055254.1:g.10336T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233596.8:c.404T>C MANE Select | ENSP00000233596.2:p.Leu135Pro | |
| ENST00000395479.10:c.404T>C MANE Plus Clinical | ENSP00000378861.5:p.Leu135Pro | |
| ENST00000233596.7:c.404T>C | ENSP00000233596.2:p.Leu135Pro | |
| ENST00000395479.8:c.220T>C | ||
| ENST00000395484.4:c.188T>C | ENSP00000378865.4:p.Leu63Pro | |
| NM_138393.1:c.404T>C | NP_612402.1:p.Leu135Pro | |
| NM_001329556.2:c.404T>C | NP_001316485.1:p.Leu135Pro | |
| NM_138393.3:c.404T>C | NP_612402.1:p.Leu135Pro | |
| NM_138393.4:c.404T>C MANE Select | NP_612402.1:p.Leu135Pro | |
| NM_001329556.3:c.404T>C MANE Plus Clinical | NP_001316485.1:p.Leu135Pro |