Linked Data
ClinVar Variation Id:
788435
ClinVar RCV Id:
RCV000970870
dbSNP Id:
rs144982343
ExAC:
12:63195739 T / G
gnomAD v2:
12-63195739-T-G
gnomAD v3:
12-62801959-T-G
gnomAD v4:
12-62801959-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.62801959T>G , CM000674.2:g.62801959T>G | GRCh38 |
| NC_000012.11:g.63195739T>G , CM000674.1:g.63195739T>G | GRCh37 |
| NC_000012.10:g.61482006T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228705.7:c.613A>C MANE Select | ENSP00000228705.5:p.Thr205Pro | |
| ENST00000228705.6:c.613A>C | ENSP00000228705.5:p.Thr205Pro | |
| ENST00000547857.1:n.450A>C | ||
| ENST00000548414.5:n.494A>C | ||
| NM_020700.1:c.613A>C | NP_065751.1:p.Thr205Pro | |
| XM_011538578.1:c.499A>C | XP_011536880.1:p.Thr167Pro | |
| XM_011538579.1:c.-141A>C | XP_011536881.1:n.-141A>C | |
| XM_011538578.2:c.499A>C | XP_011536880.1:p.Thr167Pro | |
| XM_017019676.2:c.613A>C | XP_016875165.1:p.Thr205Pro | |
| NM_020700.2:c.613A>C MANE Select | NP_065751.1:p.Thr205Pro |