Linked Data
dbSNP Id:
rs373458344
ExAC:
10:99359551 A / G
gnomAD v2:
10-99359551-A-G
gnomAD v3:
10-97599794-A-G
gnomAD v4:
10-97599794-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97599794A>G , CM000672.2:g.97599794A>G | GRCh38 |
| NC_000010.10:g.99359551A>G , CM000672.1:g.99359551A>G | GRCh37 |
| NC_000010.9:g.99349541A>G | NCBI36 |
| NG_027922.1:g.20450A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370646.9:c.583A>G MANE Select | ENSP00000359680.4:p.Met195Val | |
| ENST00000370646.8:c.583A>G | ENSP00000359680.4:p.Met195Val | |
| ENST00000370647.8:c.212-2063A>G | ENSP00000359681.4:n.212-2063A>G | |
| ENST00000370649.3:c.212-2063A>G | ENSP00000359683.3:n.212-2063A>G | |
| ENST00000465608.1:n.1427A>G | ||
| NM_001134670.1:c.212-2063A>G | NP_001128142.1:n.212-2063A>G | |
| NM_138413.3:c.583A>G | NP_612422.2:p.Met195Val | |
| NM_138413.4:c.583A>G MANE Select | NP_612422.2:p.Met195Val | |
| NM_001134670.2:c.212-2063A>G | NP_001128142.1:n.212-2063A>G |