Linked Data
dbSNP Id:
rs767801047
ExAC:
14:24725280 A / G
gnomAD v2:
14-24725280-A-G
gnomAD v4:
14-24256074-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256074A>G , CM000676.2:g.24256074A>G | GRCh38 |
| NC_000014.8:g.24725280A>G , CM000676.1:g.24725280A>G | GRCh37 |
| NC_000014.7:g.23795120A>G | NCBI36 |
| NG_007150.1:g.12093T>C | |
| NG_007150.2:g.12093T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1406T>C MANE Select | ENSP00000206765.6:p.Ile469Thr | |
| ENST00000206765.10:c.1406T>C | ENSP00000206765.6:p.Ile469Thr | |
| ENST00000544573.5:c.80T>C | ENSP00000439446.1:p.Ile27Thr | |
| ENST00000559136.1:c.479T>C | ENSP00000453337.1:p.Ile160Thr | |
| NM_000359.2:c.1406T>C | NP_000350.1:p.Ile469Thr | |
| NM_000359.3:c.1406T>C MANE Select | NP_000350.1:p.Ile469Thr |