Linked Data
ClinVar Variation Id:
838962
ClinVar RCV Id:
RCV001040621
dbSNP Id:
rs759980701
ExAC:
11:86665887 T / C
gnomAD v2:
11-86665887-T-C
gnomAD v4:
11-86954845-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954845T>C , CM000673.2:g.86954845T>C | GRCh38 |
| NC_000011.9:g.86665887T>C , CM000673.1:g.86665887T>C | GRCh37 |
| NC_000011.8:g.86343535T>C | NCBI36 |
| NG_011752.1:g.5547A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000531380.2:c.241A>G MANE Select | ENSP00000434034.1:p.Thr81Ala | |
| ENST00000531380.1:c.241A>G | ENSP00000434034.1:p.Thr81Ala | |
| NM_012193.3:c.241A>G | NP_036325.2:p.Thr81Ala | |
| NM_012193.4:c.241A>G MANE Select | NP_036325.2:p.Thr81Ala |