Linked Data
ClinVar Variation Id:
11632
ClinVar RCV Id:
RCV000012398
dbSNP Id:
rs104894931
PubMed:
PMID:14661163
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74529355T>C , CM000685.2:g.74529355T>C | GRCh38 |
| NC_000023.10:g.73749190T>C , CM000685.1:g.73749190T>C | GRCh37 |
| NC_000023.9:g.73665915T>C | NCBI36 |
| NG_011641.1:g.113106T>C | |
| NG_011641.2:g.113106T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587091.6:c.1313T>C MANE Select | ENSP00000465734.1:p.Leu438Pro | |
| ENST00000636771.1:c.1222T>C | ||
| ENST00000587091.5:c.1313T>C | ENSP00000465734.1:p.Leu438Pro | |
| ENST00000590447.1:c.611-1978T>C | ||
| NM_006517.4:c.1313T>C | NP_006508.2:p.Leu438Pro | |
| XM_005262294.1:c.1171-1978T>C | XP_005262351.1:n.1171-1978T>C | |
| NM_006517.5:c.1313T>C MANE Select | NP_006508.2:p.Leu438Pro |