Linked Data
dbSNP Id:
rs778157617
ExAC:
6:32188560 T / G
gnomAD v2:
6-32188560-T-G
gnomAD v4:
6-32220783-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220783T>G , CM000668.2:g.32220783T>G | GRCh38 |
| NC_000006.11:g.32188560T>G , CM000668.1:g.32188560T>G | GRCh37 |
| NC_000006.10:g.32296538T>G | NCBI36 |
| NG_028190.1:g.8285A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.895A>C MANE Select | ENSP00000364163.3:p.Thr299Pro | |
| ENST00000473562.1:n.1024A>C | ||
| NM_004557.3:c.895A>C | NP_004548.3:p.Thr299Pro | |
| NR_134949.1:n.1034A>C | ||
| NR_134950.1:n.1034A>C | ||
| NM_004557.4:c.895A>C MANE Select | NP_004548.3:p.Thr299Pro | |
| NR_134949.2:n.1034A>C | ||
| NR_134950.2:n.1034A>C |