Linked Data
ClinVar Variation Id:
219126
ClinVar RCV Id:
RCV000203542
dbSNP Id:
rs745756308
ExAC:
2:138771444 T / C
gnomAD v2:
2-138771444-T-C
gnomAD v4:
2-138013874-T-C
PubMed:
PMID:26206890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.138013874T>C , CM000664.2:g.138013874T>C | GRCh38 |
| NC_000002.11:g.138771444T>C , CM000664.1:g.138771444T>C | GRCh37 |
| NC_000002.10:g.138487914T>C | NCBI36 |
| NG_012966.1:g.54637T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280097.5:c.623T>C MANE Select | ENSP00000280097.3:p.Leu208Pro | |
| ENST00000280097.4:c.623T>C | ENSP00000280097.3:p.Leu208Pro | |
| ENST00000410115.5:c.623T>C | ENSP00000386940.1:p.Leu208Pro | |
| ENST00000485653.1:n.555T>C | ||
| NM_006895.2:c.623T>C | NP_008826.1:p.Leu208Pro | |
| XM_011511063.1:c.521T>C | XP_011509365.1:p.Leu174Pro | |
| XM_011511064.1:c.245T>C | XP_011509366.1:p.Leu82Pro | |
| XM_011511064.2:c.245T>C | XP_011509366.1:p.Leu82Pro | |
| XM_017003948.1:c.521T>C | XP_016859437.1:p.Leu174Pro | |
| XR_001739719.1:n.232-6078A>G | ||
| XR_002959286.1:n.1010T>C | ||
| NM_006895.3:c.623T>C MANE Select | NP_008826.1:p.Leu208Pro |