Linked Data
ClinVar Variation Id:
1213947
ClinVar RCV Id:
RCV001591890
dbSNP Id:
rs763789288
ExAC:
1:215955413 T / C
gnomAD v2:
1-215955413-T-C
gnomAD v4:
1-215782071-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215782071T>C , CM000663.2:g.215782071T>C | GRCh38 |
| NC_000001.10:g.215955413T>C , CM000663.1:g.215955413T>C | GRCh37 |
| NC_000001.9:g.214022036T>C | NCBI36 |
| NG_009497.1:g.646326A>G | |
| NG_009497.2:g.646378A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10711A>G MANE Select | ENSP00000305941.3:p.Thr3571Ala | |
| ENST00000674083.1:c.10711A>G | ENSP00000501296.1:p.Thr3571Ala | |
| ENST00000307340.7:c.10711A>G | ENSP00000305941.3:p.Thr3571Ala | |
| NM_206933.2:c.10711A>G | NP_996816.2:p.Thr3571Ala | |
| NM_206933.3:c.10711A>G | NP_996816.2:p.Thr3571Ala | |
| NM_206933.4:c.10711A>G MANE Select | NP_996816.3:p.Thr3571Ala |