Linked Data
dbSNP Id:
rs775550503
ExAC:
16:67470617 C / G
gnomAD v2:
16-67470617-C-G
gnomAD v4:
16-67436714-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436714C>G , CM000678.2:g.67436714C>G | GRCh38 |
| NC_000016.9:g.67470617C>G , CM000678.1:g.67470617C>G | GRCh37 |
| NC_000016.8:g.66028118C>G | NCBI36 |
| NG_011482.1:g.49473G>C | |
| NG_016549.1:g.10582C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.929C>G MANE Select | ENSP00000316786.5:p.Ser310Trp | |
| ENST00000326152.5:c.929C>G | ENSP00000316786.5:p.Ser310Trp | |
| NM_000196.3:c.929C>G | NP_000187.3:p.Ser310Trp | |
| NM_000196.4:c.929C>G MANE Select | NP_000187.3:p.Ser310Trp |