Linked Data
ClinVar Variation Id:
193569
dbSNP Id:
rs371112962
ExAC:
2:110919267 T / C
gnomAD v2:
2-110919267-T-C
gnomAD v3:
2-110161690-T-C
gnomAD v4:
2-110161690-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110161690T>C , CM000664.2:g.110161690T>C | GRCh38 |
| NC_000002.11:g.110919267T>C , CM000664.1:g.110919267T>C | GRCh37 |
| NC_000002.10:g.110276556T>C | NCBI36 |
| NG_008287.1:g.48373A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.867A>G MANE Select | ENSP00000389879.3:p.Gln289= | |
| ENST00000674677.1:c.798A>G | ENSP00000502265.1:p.Gln266= | |
| ENST00000675067.1:c.66A>G | ENSP00000502817.1:p.Gln22= | |
| ENST00000675356.1:n.1355A>G | ||
| ENST00000675752.1:n.2452A>G | ||
| ENST00000676028.1:c.772-1435A>G | ENSP00000502639.1:n.772-1435A>G | |
| ENST00000676053.1:c.678A>G | ENSP00000502475.1:p.Gln226= | |
| ENST00000676091.1:c.151-1435A>G | ENSP00000502528.1:n.151-1435A>G | |
| ENST00000676165.1:n.2458A>G | ||
| ENST00000676258.1:n.1958A>G | ||
| ENST00000316534.8:c.1035A>G | ENSP00000313169.4:p.Gln345= | |
| ENST00000355301.8:c.678A>G | ENSP00000347452.4:p.Gln226= | |
| ENST00000393272.7:c.1032A>G | ENSP00000376953.3:p.Gln344= | |
| ENST00000417665.5:c.864A>G | ENSP00000402176.1:p.Gln288= | |
| ENST00000445609.6:c.867A>G | ENSP00000389879.2:p.Gln289= | |
| ENST00000461707.5:n.2452A>G | ||
| ENST00000496524.5:n.2468A>G | ||
| NM_000272.3:c.1035A>G | NP_000263.2:p.Gln345= | |
| NM_001128178.1:c.867A>G | NP_001121650.1:p.Gln289= | |
| NM_001128179.1:c.678A>G | NP_001121651.1:p.Gln226= | |
| NM_207181.2:c.1032A>G | NP_997064.2:p.Gln344= | |
| XM_005263675.1:c.1032A>G | XP_005263732.1:p.Gln344= | |
| XM_005263676.1:c.867A>G | XP_005263733.1:p.Gln289= | |
| XM_005263677.1:c.864A>G | XP_005263734.1:p.Gln288= | |
| XM_005263678.2:c.1035A>G | XP_005263735.1:p.Gln345= | |
| XM_005263679.1:c.864A>G | XP_005263736.1:p.Gln288= | |
| XM_006712551.1:c.1035A>G | XP_006712614.1:p.Gln345= | |
| XM_006712552.2:c.1035A>G | XP_006712615.1:p.Gln345= | |
| XM_011511244.1:c.1035A>G | XP_011509546.1:p.Gln345= | |
| XM_017004218.1:c.867A>G | XP_016859707.1:p.Gln289= | |
| NM_000272.4:c.1035A>G | NP_000263.2:p.Gln345= | |
| NM_001128178.3:c.867A>G MANE Select | NP_001121650.1:p.Gln289= | |
| NM_001128179.2:c.678A>G | NP_001121651.1:p.Gln226= | |
| NM_001374256.1:c.864A>G | NP_001361185.1:p.Gln288= | |
| NM_001374257.1:c.867A>G | NP_001361186.1:p.Gln289= | |
| NM_207181.3:c.1032A>G | NP_997064.2:p.Gln344= | |
| NM_000272.5:c.1035A>G | NP_000263.2:p.Gln345= | |
| NM_001128179.3:c.678A>G | NP_001121651.1:p.Gln226= | |
| NM_207181.4:c.1032A>G | NP_997064.2:p.Gln344= |