Linked Data
ClinVar Variation Id:
2591148
ClinVar RCV Id:
RCV003340448
dbSNP Id:
rs527537468
ExAC:
1:152284922 T / C
gnomAD v2:
1-152284922-T-C
gnomAD v3:
1-152312446-T-C
gnomAD v4:
1-152312446-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152312446T>C , CM000663.2:g.152312446T>C | GRCh38 |
| NC_000001.10:g.152284922T>C , CM000663.1:g.152284922T>C | GRCh37 |
| NC_000001.9:g.150551546T>C | NCBI36 |
| NG_016190.1:g.17758A>G , LRG_1028:g.17758A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.2440A>G MANE Select | ENSP00000357789.1:p.Thr814Ala | |
| ENST00000368799.1:c.2440A>G | ENSP00000357789.1:p.Thr814Ala | |
| NM_002016.1:c.2440A>G , LRG_1028t1:c.2440A>G | NP_002007.1:p.Thr814Ala | |
| XM_011509329.1:c.2440A>G | XP_011507631.1:p.Thr814Ala | |
| NM_002016.2:c.2440A>G MANE Select | NP_002007.1:p.Thr814Ala |