Linked Data
ClinVar Variation Id:
3510
dbSNP Id:
rs121907899
ExAC:
2:110920625 C / T
gnomAD v2:
2-110920625-C-T
gnomAD v3:
2-110163048-C-T
gnomAD v4:
2-110163048-C-T
PubMed:
PMID:10839884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110163048C>T , CM000664.2:g.110163048C>T | GRCh38 |
| NC_000002.11:g.110920625C>T , CM000664.1:g.110920625C>T | GRCh37 |
| NC_000002.10:g.110277914C>T | NCBI36 |
| NG_008287.1:g.47015G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.859G>A MANE Select | ENSP00000389879.3:p.Gly287Arg | |
| ENST00000674677.1:c.790G>A | ENSP00000502265.1:p.Gly264Arg | |
| ENST00000675067.1:c.58G>A | ENSP00000502817.1:p.Gly20Arg | |
| ENST00000675356.1:n.1347G>A | ||
| ENST00000675752.1:n.2444G>A | ||
| ENST00000676028.1:c.771+1640G>A | ENSP00000502639.1:n.771+1640G>A | |
| ENST00000676053.1:c.670G>A | ENSP00000502475.1:p.Gly224Arg | |
| ENST00000676091.1:c.150+1640G>A | ENSP00000502528.1:n.150+1640G>A | |
| ENST00000676165.1:n.2450G>A | ||
| ENST00000676258.1:n.1950G>A | ||
| ENST00000316534.8:c.1027G>A | ENSP00000313169.4:p.Gly343Arg | |
| ENST00000355301.8:c.670G>A | ENSP00000347452.4:p.Gly224Arg | |
| ENST00000393272.7:c.1024G>A | ENSP00000376953.3:p.Gly342Arg | |
| ENST00000417665.5:c.856G>A | ENSP00000402176.1:p.Gly286Arg | |
| ENST00000445609.6:c.859G>A | ENSP00000389879.2:p.Gly287Arg | |
| ENST00000461707.5:n.2444G>A | ||
| ENST00000496524.5:n.2460G>A | ||
| NM_000272.3:c.1027G>A | NP_000263.2:p.Gly343Arg | |
| NM_001128178.1:c.859G>A | NP_001121650.1:p.Gly287Arg | |
| NM_001128179.1:c.670G>A | NP_001121651.1:p.Gly224Arg | |
| NM_207181.2:c.1024G>A | NP_997064.2:p.Gly342Arg | |
| XM_005263675.1:c.1024G>A | XP_005263732.1:p.Gly342Arg | |
| XM_005263676.1:c.859G>A | XP_005263733.1:p.Gly287Arg | |
| XM_005263677.1:c.856G>A | XP_005263734.1:p.Gly286Arg | |
| XM_005263678.2:c.1027G>A | XP_005263735.1:p.Gly343Arg | |
| XM_005263679.1:c.856G>A | XP_005263736.1:p.Gly286Arg | |
| XM_006712551.1:c.1027G>A | XP_006712614.1:p.Gly343Arg | |
| XM_006712552.2:c.1027G>A | XP_006712615.1:p.Gly343Arg | |
| XM_011511244.1:c.1027G>A | XP_011509546.1:p.Gly343Arg | |
| XM_017004218.1:c.859G>A | XP_016859707.1:p.Gly287Arg | |
| NM_000272.4:c.1027G>A | NP_000263.2:p.Gly343Arg | |
| NM_001128178.3:c.859G>A MANE Select | NP_001121650.1:p.Gly287Arg | |
| NM_001128179.2:c.670G>A | NP_001121651.1:p.Gly224Arg | |
| NM_001374256.1:c.856G>A | NP_001361185.1:p.Gly286Arg | |
| NM_001374257.1:c.859G>A | NP_001361186.1:p.Gly287Arg | |
| NM_207181.3:c.1024G>A | NP_997064.2:p.Gly342Arg | |
| NM_000272.5:c.1027G>A | NP_000263.2:p.Gly343Arg | |
| NM_001128179.3:c.670G>A | NP_001121651.1:p.Gly224Arg | |
| NM_207181.4:c.1024G>A | NP_997064.2:p.Gly342Arg |