Linked Data
ClinVar Variation Id:
55826
ClinVar RCV Id:
RCV000049247
dbSNP Id:
rs397509402
gnomAD v2:
16-14021989-T-C
PubMed:
PMID:23623386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13928132T>C , CM000678.2:g.13928132T>C | GRCh38 |
| NC_000016.9:g.14021989T>C , CM000678.1:g.14021989T>C | GRCh37 |
| NC_000016.8:g.13929490T>C | NCBI36 |
| NG_011442.1:g.12976T>C , LRG_463:g.12976T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682552.1:n.677T>C | ||
| ENST00000682568.1:n.619T>C | ||
| ENST00000682617.1:c.827T>C | ENSP00000507912.1:p.Leu276Pro | |
| ENST00000682826.1:c.689T>C | ENSP00000507274.1:p.Leu230Pro | |
| ENST00000682909.1:n.2729T>C | ||
| ENST00000683277.1:n.2334T>C | ||
| ENST00000683407.1:n.697T>C | ||
| ENST00000683962.1:c.*383T>C | ENSP00000506854.1:n.*383T>C | |
| ENST00000311895.8:c.689T>C MANE Select | ENSP00000310520.7:p.Leu230Pro | |
| ENST00000311895.7:c.689T>C | ENSP00000310520.7:p.Leu230Pro | |
| ENST00000574194.1:c.216T>C | ||
| ENST00000574781.1:n.366T>C | ||
| ENST00000575156.5:c.689T>C | ENSP00000459933.1:p.Leu230Pro | |
| NM_005236.2:c.689T>C , LRG_463t1:c.689T>C | NP_005227.1:p.Leu230Pro | |
| XM_011522424.1:c.827T>C | XP_011520726.1:p.Leu276Pro | |
| XM_011522425.1:c.146T>C | XP_011520727.1:p.Leu49Pro | |
| XR_932805.1:n.848T>C | ||
| XM_011522424.3:c.827T>C | XP_011520726.1:p.Leu276Pro | |
| XM_017023043.2:c.-249T>C | XP_016878532.1:n.-249T>C | |
| NM_005236.3:c.689T>C MANE Select | NP_005227.1:p.Leu230Pro |