Linked Data
dbSNP Id:
rs1231075136
gnomAD v2:
10-79769686-G-C
gnomAD v3:
10-78009928-G-C
gnomAD v4:
10-78009928-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78009928G>C , CM000672.2:g.78009928G>C | GRCh38 |
| NC_000010.10:g.79769686G>C , CM000672.1:g.79769686G>C | GRCh37 |
| NC_000010.9:g.79439692G>C | NCBI36 |
| NG_029648.1:g.24613C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698728.1:n.1285C>G | ||
| ENST00000698729.1:n.2831C>G | ||
| ENST00000698730.1:n.2831C>G | ||
| ENST00000698731.1:c.1565C>G | ENSP00000513898.1:p.Ala522Gly | |
| ENST00000698732.1:c.*567C>G | ENSP00000513899.1:n.*567C>G | |
| ENST00000698733.1:c.*893C>G | ENSP00000513900.1:n.*893C>G | |
| ENST00000698734.1:c.1706C>G | ENSP00000513901.1:p.Ala569Gly | |
| ENST00000698735.1:n.1821C>G | ||
| ENST00000698736.1:n.1821C>G | ||
| ENST00000698737.1:n.1821C>G | ||
| ENST00000698738.1:n.1821C>G | ||
| ENST00000698739.1:n.1821C>G | ||
| ENST00000372371.8:c.1706C>G MANE Select | ENSP00000361446.3:p.Ala569Gly | |
| ENST00000372371.7:c.1706C>G | ENSP00000361446.3:p.Ala569Gly | |
| ENST00000473588.2:c.508C>G | ||
| NM_007055.3:c.1706C>G | NP_008986.2:p.Ala569Gly | |
| NM_007055.4:c.1706C>G MANE Select | NP_008986.2:p.Ala569Gly |