Linked Data
ClinVar Variation Id:
1297197
ClinVar RCV Id:
RCV001724901
dbSNP Id:
rs422951
ExAC:
6:32188383 T / C
gnomAD v2:
6-32188383-T-C
gnomAD v3:
6-32220606-T-C
gnomAD v4:
6-32220606-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220606T>C , CM000668.2:g.32220606T>C | GRCh38 |
| NC_000006.11:g.32188383T>C , CM000668.1:g.32188383T>C | GRCh37 |
| NC_000006.10:g.32296361T>C | NCBI36 |
| NG_028190.1:g.8462A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.958A>G MANE Select | ENSP00000364163.3:p.Thr320Ala | |
| ENST00000473562.1:n.1087A>G | ||
| NM_004557.3:c.958A>G | NP_004548.3:p.Thr320Ala | |
| NR_134949.1:n.1097A>G | ||
| NR_134950.1:n.1097A>G | ||
| NM_004557.4:c.958A>G MANE Select | NP_004548.3:p.Thr320Ala | |
| NR_134949.2:n.1097A>G | ||
| NR_134950.2:n.1097A>G |