Linked Data
dbSNP Id:
rs1241294965
gnomAD v2:
14-24725227-T-C
gnomAD v3:
14-24256021-T-C
gnomAD v4:
14-24256021-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24256021T>C , CM000676.2:g.24256021T>C | GRCh38 |
| NC_000014.8:g.24725227T>C , CM000676.1:g.24725227T>C | GRCh37 |
| NC_000014.7:g.23795067T>C | NCBI36 |
| NG_007150.1:g.12146A>G | |
| NG_007150.2:g.12146A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1459A>G MANE Select | ENSP00000206765.6:p.Met487Val | |
| ENST00000206765.10:c.1459A>G | ENSP00000206765.6:p.Met487Val | |
| ENST00000544573.5:c.133A>G | ENSP00000439446.1:p.Met45Val | |
| ENST00000559136.1:c.532A>G | ENSP00000453337.1:p.Met178Val | |
| NM_000359.2:c.1459A>G | NP_000350.1:p.Met487Val | |
| NM_000359.3:c.1459A>G MANE Select | NP_000350.1:p.Met487Val |