ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.60842734A>G , CM000673.2:g.60842734A>G | GRCh38 |
| NC_000011.9:g.60610207A>G , CM000673.1:g.60610207A>G | GRCh37 |
| NC_000011.8:g.60366783A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227520.10:c.610A>G MANE Select | ENSP00000227520.5:p.Thr204Ala | |
| ENST00000227520.9:c.610A>G | ENSP00000227520.5:p.Thr204Ala | |
| ENST00000535217.1:c.294A>G | ||
| NM_024098.3:c.610A>G | NP_077003.1:p.Thr204Ala | |
| NM_024098.4:c.610A>G MANE Select | NP_077003.1:p.Thr204Ala |