Linked Data
ClinVar Variation Id:
193570
dbSNP Id:
rs794726975
gnomAD v2:
2-110919222-T-C
gnomAD v3:
2-110161645-T-C
gnomAD v4:
2-110161645-T-C
COSMIC:
COSM3836568
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110161645T>C , CM000664.2:g.110161645T>C | GRCh38 |
| NC_000002.11:g.110919222T>C , CM000664.1:g.110919222T>C | GRCh37 |
| NC_000002.10:g.110276511T>C | NCBI36 |
| NG_008287.1:g.48418A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.912A>G MANE Select | ENSP00000389879.3:p.Gln304= | |
| ENST00000674677.1:c.843A>G | ENSP00000502265.1:p.Gln281= | |
| ENST00000675067.1:c.111A>G | ENSP00000502817.1:p.Gln37= | |
| ENST00000675356.1:n.1400A>G | ||
| ENST00000675752.1:n.2497A>G | ||
| ENST00000676028.1:c.772-1390A>G | ENSP00000502639.1:n.772-1390A>G | |
| ENST00000676053.1:c.723A>G | ENSP00000502475.1:p.Gln241= | |
| ENST00000676091.1:c.151-1390A>G | ENSP00000502528.1:n.151-1390A>G | |
| ENST00000676165.1:n.2503A>G | ||
| ENST00000676258.1:n.2003A>G | ||
| ENST00000316534.8:c.1080A>G | ENSP00000313169.4:p.Gln360= | |
| ENST00000355301.8:c.723A>G | ENSP00000347452.4:p.Gln241= | |
| ENST00000393272.7:c.1077A>G | ENSP00000376953.3:p.Gln359= | |
| ENST00000417665.5:c.909A>G | ENSP00000402176.1:p.Gln303= | |
| ENST00000445609.6:c.912A>G | ENSP00000389879.2:p.Gln304= | |
| ENST00000461707.5:n.2497A>G | ||
| ENST00000496524.5:n.2513A>G | ||
| NM_000272.3:c.1080A>G | NP_000263.2:p.Gln360= | |
| NM_001128178.1:c.912A>G | NP_001121650.1:p.Gln304= | |
| NM_001128179.1:c.723A>G | NP_001121651.1:p.Gln241= | |
| NM_207181.2:c.1077A>G | NP_997064.2:p.Gln359= | |
| XM_005263675.1:c.1077A>G | XP_005263732.1:p.Gln359= | |
| XM_005263676.1:c.912A>G | XP_005263733.1:p.Gln304= | |
| XM_005263677.1:c.909A>G | XP_005263734.1:p.Gln303= | |
| XM_005263678.2:c.1080A>G | XP_005263735.1:p.Gln360= | |
| XM_005263679.1:c.909A>G | XP_005263736.1:p.Gln303= | |
| XM_006712551.1:c.1080A>G | XP_006712614.1:p.Gln360= | |
| XM_006712552.2:c.1080A>G | XP_006712615.1:p.Gln360= | |
| XM_011511244.1:c.1080A>G | XP_011509546.1:p.Gln360= | |
| XM_017004218.1:c.912A>G | XP_016859707.1:p.Gln304= | |
| NM_000272.4:c.1080A>G | NP_000263.2:p.Gln360= | |
| NM_001128178.3:c.912A>G MANE Select | NP_001121650.1:p.Gln304= | |
| NM_001128179.2:c.723A>G | NP_001121651.1:p.Gln241= | |
| NM_001374256.1:c.909A>G | NP_001361185.1:p.Gln303= | |
| NM_001374257.1:c.912A>G | NP_001361186.1:p.Gln304= | |
| NM_207181.3:c.1077A>G | NP_997064.2:p.Gln359= | |
| NM_000272.5:c.1080A>G | NP_000263.2:p.Gln360= | |
| NM_001128179.3:c.723A>G | NP_001121651.1:p.Gln241= | |
| NM_207181.4:c.1077A>G | NP_997064.2:p.Gln359= |