Linked Data
ClinVar Variation Id:
216416
ClinVar RCV Id:
RCV000196832
RCV000730183
RCV001128696
RCV001135698
RCV001128695
RCV002282034
RCV002517295
RCV002478707
dbSNP Id:
rs780427871
ExAC:
2:110881541 C / G
gnomAD v2:
2-110881541-C-G
gnomAD v3:
2-110123964-C-G
gnomAD v4:
2-110123964-C-G
COSMIC:
COSM2982925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110123964C>G , CM000664.2:g.110123964C>G | GRCh38 |
| NC_000002.11:g.110881541C>G , CM000664.1:g.110881541C>G | GRCh37 |
| NC_000002.10:g.110238830C>G | NCBI36 |
| NG_008287.1:g.86099G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.1861G>C MANE Select | ENSP00000389879.3:p.Glu621Gln | |
| ENST00000674677.1:c.3479G>C | ENSP00000502265.1:n.3479G>C | |
| ENST00000675067.1:c.1060G>C | ENSP00000502817.1:p.Glu354Gln | |
| ENST00000675294.1:n.6110G>C | ||
| ENST00000675356.1:n.2539G>C | ||
| ENST00000675632.1:n.3265G>C | ||
| ENST00000675752.1:n.3699G>C | ||
| ENST00000676028.1:c.1678G>C | ENSP00000502639.1:p.Glu560Gln | |
| ENST00000676053.1:c.1672G>C | ENSP00000502475.1:p.Glu558Gln | |
| ENST00000676091.1:c.1057G>C | ENSP00000502528.1:p.Glu353Gln | |
| ENST00000676165.1:n.3524G>C | ||
| ENST00000676258.1:n.3087G>C | ||
| ENST00000316534.8:c.2029G>C | ENSP00000313169.4:p.Glu677Gln | |
| ENST00000355301.8:c.1672G>C | ENSP00000347452.4:p.Glu558Gln | |
| ENST00000393272.7:c.2026G>C | ENSP00000376953.3:p.Glu676Gln | |
| ENST00000417665.5:c.1963G>C | ENSP00000402176.1:p.Glu655Gln | |
| ENST00000445609.6:c.1861G>C | ENSP00000389879.2:p.Glu621Gln | |
| ENST00000461707.5:n.3446G>C | ||
| ENST00000496524.5:n.9390G>C | ||
| NM_000272.3:c.2029G>C | NP_000263.2:p.Glu677Gln | |
| NM_001128178.1:c.1861G>C | NP_001121650.1:p.Glu621Gln | |
| NM_001128179.1:c.1672G>C | NP_001121651.1:p.Glu558Gln | |
| NM_207181.2:c.2026G>C | NP_997064.2:p.Glu676Gln | |
| XM_005263675.1:c.2131G>C | XP_005263732.1:p.Glu711Gln | |
| XM_005263676.1:c.1966G>C | XP_005263733.1:p.Glu656Gln | |
| XM_005263677.1:c.1963G>C | XP_005263734.1:p.Glu655Gln | |
| XM_005263678.2:c.*103G>C | XP_005263735.1:n.*103G>C | |
| XM_005263679.1:c.1858G>C | XP_005263736.1:p.Glu620Gln | |
| XM_006712551.1:c.2134G>C | XP_006712614.1:p.Glu712Gln | |
| XM_017004218.1:c.*103G>C | XP_016859707.1:n.*103G>C | |
| NM_000272.4:c.2029G>C | NP_000263.2:p.Glu677Gln | |
| NM_001128178.3:c.1861G>C MANE Select | NP_001121650.1:p.Glu621Gln | |
| NM_001128179.2:c.1672G>C | NP_001121651.1:p.Glu558Gln | |
| NM_001374256.1:c.1858G>C | NP_001361185.1:p.Glu620Gln | |
| NM_001374257.1:c.*103G>C | NP_001361186.1:n.*103G>C | |
| NM_207181.3:c.2026G>C | NP_997064.2:p.Glu676Gln | |
| NM_000272.5:c.2029G>C | NP_000263.2:p.Glu677Gln | |
| NM_001128179.3:c.1672G>C | NP_001121651.1:p.Glu558Gln | |
| NM_207181.4:c.2026G>C | NP_997064.2:p.Glu676Gln |