Linked Data
ClinVar Variation Id:
515262
dbSNP Id:
rs1212026437
gnomAD v2:
20-10632232-T-C
gnomAD v4:
20-10651584-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10651584T>C , CM000682.2:g.10651584T>C | GRCh38 |
| NC_000020.10:g.10632232T>C , CM000682.1:g.10632232T>C | GRCh37 |
| NC_000020.9:g.10580232T>C | NCBI36 |
| NG_007496.1:g.27463A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.1117A>G MANE Select | ENSP00000254958.4:p.Thr373Ala | |
| ENST00000617965.2:n.486A>G | ||
| ENST00000254958.9:c.1117A>G | ENSP00000254958.4:p.Thr373Ala | |
| ENST00000423891.6:n.983A>G | ||
| ENST00000617965.1:n.486A>G | ||
| NM_000214.2:c.1117A>G | NP_000205.1:p.Thr373Ala | |
| NM_000214.3:c.1117A>G MANE Select | NP_000205.1:p.Thr373Ala |