Linked Data
ClinVar Variation Id:
40011
ClinVar RCV Id:
RCV000033138
dbSNP Id:
rs28757581
ExAC:
6:29080004 A / G
gnomAD v2:
6-29080004-A-G
gnomAD v3:
6-29112227-A-G
gnomAD v4:
6-29112227-A-G
PubMed:
PMID:22714804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29112227A>G , CM000668.2:g.29112227A>G | GRCh38 |
| NC_000006.11:g.29080004A>G , CM000668.1:g.29080004A>G | GRCh37 |
| NC_000006.10:g.29187983A>G | NCBI36 |
| NG_033252.1:g.5418A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377169.2:c.337A>G | ENSP00000366374.1:p.Thr113Ala | |
| ENST00000641151.2:c.337A>G MANE Select | ENSP00000492961.1:p.Thr113Ala | |
| ENST00000641960.1:c.337A>G | ENSP00000493439.1:p.Thr113Ala | |
| ENST00000377169.1:c.337A>G | ENSP00000366374.1:p.Thr113Ala | |
| NM_001005216.3:c.337A>G | NP_001005216.2:p.Thr113Ala | |
| XR_926668.1:n.78-1973A>G | ||
| XR_926668.2:n.78-1973A>G | ||
| NM_001005216.4:c.337A>G MANE Select | NP_001005216.2:p.Thr113Ala |