Linked Data
dbSNP Id:
rs1339929275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851264C>G , CM000668.2:g.131851264C>G | GRCh38 |
| NC_000006.11:g.132172404C>G , CM000668.1:g.132172404C>G | GRCh37 |
| NC_000006.10:g.132214097C>G | NCBI36 |
| NG_008206.1:g.48249C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.553C>G MANE Select | ENSP00000498074.1:p.Gln185Glu | |
| ENST00000650147.1:c.231C>G | ||
| ENST00000650437.1:c.108+1158C>G | ||
| ENST00000360971.6:c.553C>G | ENSP00000354238.2:p.Gln185Glu | |
| ENST00000486853.1:n.573C>G | ||
| ENST00000513998.5:c.553C>G | ENSP00000422424.1:p.Gln185Glu | |
| NM_006208.2:c.553C>G | NP_006199.2:p.Gln185Glu | |
| NM_006208.3:c.553C>G MANE Select | NP_006199.2:p.Gln185Glu |