Linked Data
dbSNP Id:
rs766622412
ExAC:
16:67973976 C / G
gnomAD v2:
16-67973976-C-G
gnomAD v4:
16-67940073-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940073C>G , CM000678.2:g.67940073C>G | GRCh38 |
| NC_000016.9:g.67973976C>G , CM000678.1:g.67973976C>G | GRCh37 |
| NC_000016.8:g.66531477C>G | NCBI36 |
| NG_009778.1:g.9040G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1154G>C MANE Select | ENSP00000264005.5:p.Gly385Ala | |
| ENST00000264005.9:c.1154G>C | ENSP00000264005.5:p.Gly385Ala | |
| ENST00000570369.5:c.157G>C | ||
| ENST00000573538.5:c.892G>C | ENSP00000463220.1:n.892G>C | |
| NM_000229.1:c.1154G>C | NP_000220.1:p.Gly385Ala | |
| NM_000229.2:c.1154G>C MANE Select | NP_000220.1:p.Gly385Ala |