Linked Data
ClinVar Variation Id:
11198
ClinVar RCV Id:
RCV000011949
dbSNP Id:
rs28936077
PubMed:
PMID:11971879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25015640A>G , CM000685.2:g.25015640A>G | GRCh38 |
| NC_000023.10:g.25033757A>G , CM000685.1:g.25033757A>G | GRCh37 |
| NC_000023.9:g.24943678A>G | NCBI36 |
| NG_008281.1:g.5309T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.98T>C MANE Select | ENSP00000368332.4:p.Leu33Pro | |
| ENST00000636609.1:n.41T>C | ||
| ENST00000637394.1:n.73T>C | ||
| ENST00000379044.4:c.98T>C | ENSP00000368332.4:p.Leu33Pro | |
| NM_139058.2:c.98T>C | NP_620689.1:p.Leu33Pro | |
| NM_139058.3:c.98T>C MANE Select | NP_620689.1:p.Leu33Pro |