Linked Data
ClinVar Variation Id:
7356
ClinVar RCV Id:
RCV000007781
dbSNP Id:
rs104894297
ExAC:
11:121174221 A / C
gnomAD v2:
11-121174221-A-C
gnomAD v3:
11-121303512-A-C
gnomAD v4:
11-121303512-A-C
PubMed:
PMID:12812989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121303512A>C , CM000673.2:g.121303512A>C | GRCh38 |
| NC_000011.9:g.121174221A>C , CM000673.1:g.121174221A>C | GRCh37 |
| NC_000011.8:g.120679431A>C | NCBI36 |
| NG_009446.1:g.15834A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264027.9:c.137A>C MANE Select | ENSP00000264027.4:p.Tyr46Ser | |
| ENST00000264027.8:c.137A>C | ENSP00000264027.4:p.Tyr46Ser | |
| ENST00000392789.2:c.137A>C | ENSP00000376539.2:p.Tyr46Ser | |
| ENST00000524683.5:n.193A>C | ||
| ENST00000527762.5:c.137A>C | ENSP00000436290.1:p.Tyr46Ser | |
| ENST00000531140.1:n.205A>C | ||
| ENST00000534230.5:c.137A>C | ENSP00000432550.1:p.Tyr46Ser | |
| ENST00000534455.5:n.283A>C | ||
| NM_001024956.2:c.137A>C | NP_001020127.1:p.Tyr46Ser | |
| NM_006918.4:c.137A>C | NP_008849.2:p.Tyr46Ser | |
| NM_006918.5:c.137A>C MANE Select | NP_008849.2:p.Tyr46Ser | |
| NM_001024956.3:c.137A>C | NP_001020127.1:p.Tyr46Ser |