Linked Data
ClinVar Variation Id:
141418
ClinVar RCV Id:
RCV000129925
dbSNP Id:
rs587781732
ExAC:
5:131940659 A / G
gnomAD v2:
5-131940659-A-G
gnomAD v4:
5-132604967-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604967A>G , CM000667.2:g.132604967A>G | GRCh38 |
| NC_000005.9:g.131940659A>G , CM000667.1:g.131940659A>G | GRCh37 |
| NC_000005.8:g.131968558A>G | NCBI36 |
| NG_021151.1:g.53044A>G | |
| NG_021151.2:g.52991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2686A>G MANE Select | ENSP00000368100.4:p.Thr896Ala | |
| ENST00000638452.2:c.2389A>G | ENSP00000492349.2:p.Thr797Ala | |
| ENST00000638504.1:n.2294A>G | ||
| ENST00000638568.2:c.2389A>G | ENSP00000491158.2:p.Thr797Ala | |
| ENST00000639899.1:n.3205A>G | ||
| ENST00000640655.2:c.2389A>G | ENSP00000491596.2:p.Thr797Ala | |
| ENST00000651160.1:c.*830A>G | ENSP00000498829.1:n.*830A>G | |
| ENST00000651723.1:c.*2769A>G | ENSP00000498237.1:n.*2769A>G | |
| ENST00000652016.1:c.*903A>G | ENSP00000498267.1:n.*903A>G | |
| ENST00000378823.7:c.2686A>G | ENSP00000368100.4:p.Thr896Ala | |
| ENST00000423956.5:c.*872A>G | ENSP00000390971.1:n.*872A>G | |
| ENST00000533482.5:c.*2312A>G | ENSP00000431225.1:n.*2312A>G | |
| NM_005732.3:c.2686A>G | NP_005723.2:p.Thr896Ala | |
| NM_005732.4:c.2686A>G MANE Select | NP_005723.2:p.Thr896Ala |