Linked Data
ClinVar Variation Id:
330725
dbSNP Id:
rs886054752
gnomAD v3:
2-110123469-T-C
gnomAD v4:
2-110123469-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110123469T>C , CM000664.2:g.110123469T>C | GRCh38 |
| NC_000002.11:g.110881046T>C , CM000664.1:g.110881046T>C | GRCh37 |
| NC_000002.10:g.110238335T>C | NCBI36 |
| NG_008287.1:g.86594A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.*322A>G MANE Select | ENSP00000389879.3:n.*322A>G | |
| ENST00000674677.1:c.3974A>G | ENSP00000502265.1:n.3974A>G | |
| ENST00000675067.1:c.*322A>G | ENSP00000502817.1:n.*322A>G | |
| ENST00000675294.1:n.6605A>G | ||
| ENST00000675356.1:n.3034A>G | ||
| ENST00000675632.1:n.3760A>G | ||
| ENST00000676028.1:c.*322A>G | ENSP00000502639.1:n.*322A>G | |
| ENST00000676053.1:c.*322A>G | ENSP00000502475.1:n.*322A>G | |
| ENST00000676165.1:n.4019A>G | ||
| ENST00000316534.8:c.*322A>G | ENSP00000313169.4:n.*322A>G | |
| ENST00000393272.7:c.*322A>G | ENSP00000376953.3:n.*322A>G | |
| ENST00000445609.6:c.*322A>G | ENSP00000389879.2:n.*322A>G | |
| ENST00000496524.5:n.9885A>G | ||
| NM_000272.3:c.*322A>G | NP_000263.2:n.*322A>G | |
| NM_001128178.1:c.*322A>G | NP_001121650.1:n.*322A>G | |
| NM_001128179.1:c.*322A>G | NP_001121651.1:n.*322A>G | |
| NM_207181.2:c.*322A>G | NP_997064.2:n.*322A>G | |
| XM_005263675.1:c.*322A>G | XP_005263732.1:n.*322A>G | |
| XM_005263676.1:c.*322A>G | XP_005263733.1:n.*322A>G | |
| XM_005263677.1:c.*322A>G | XP_005263734.1:n.*322A>G | |
| XM_005263678.2:c.*598A>G | XP_005263735.1:n.*598A>G | |
| XM_005263679.1:c.*322A>G | XP_005263736.1:n.*322A>G | |
| XM_006712551.1:c.*322A>G | XP_006712614.1:n.*322A>G | |
| XM_017004218.1:c.*598A>G | XP_016859707.1:n.*598A>G | |
| NM_000272.4:c.*322A>G | NP_000263.2:n.*322A>G | |
| NM_001128178.3:c.*322A>G MANE Select | NP_001121650.1:n.*322A>G | |
| NM_001128179.2:c.*322A>G | NP_001121651.1:n.*322A>G | |
| NM_001374256.1:c.*322A>G | NP_001361185.1:n.*322A>G | |
| NM_001374257.1:c.*598A>G | NP_001361186.1:n.*598A>G | |
| NM_207181.3:c.*322A>G | NP_997064.2:n.*322A>G | |
| NM_000272.5:c.*322A>G | NP_000263.2:n.*322A>G | |
| NM_001128179.3:c.*322A>G | NP_001121651.1:n.*322A>G | |
| NM_207181.4:c.*322A>G | NP_997064.2:n.*322A>G |