Linked Data
dbSNP Id:
rs765474005
ExAC:
21:47786916 A / G
gnomAD v2:
21-47786916-A-G
gnomAD v4:
21-46367001-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46367001A>G , CM000683.2:g.46367001A>G | GRCh38 |
| NC_000021.8:g.47786916A>G , CM000683.1:g.47786916A>G | GRCh37 |
| NC_000021.7:g.46611344A>G | NCBI36 |
| NG_008961.1:g.47881A>G | |
| NG_008961.2:g.47880A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.*1523A>G | ENSP00000511987.1:n.*1523A>G | |
| ENST00000695525.1:n.3113A>G | ||
| ENST00000695558.1:c.3027A>G | ENSP00000512015.1:p.Gln1009= | |
| ENST00000703224.1:c.*2270A>G | ENSP00000515242.1:n.*2270A>G | |
| ENST00000359568.10:c.3027A>G MANE Select | ENSP00000352572.5:p.Gln1009= | |
| ENST00000359568.9:c.3027A>G | ENSP00000352572.5:p.Gln1009= | |
| ENST00000480896.5:n.3296A>G | ||
| NM_001315529.1:c.2673A>G | NP_001302458.1:p.Gln891= | |
| NM_006031.5:c.3027A>G | NP_006022.3:p.Gln1009= | |
| XM_005261124.3:c.3027A>G | XP_005261181.1:p.Gln1009= | |
| XM_011529593.1:c.3108A>G | XP_011527895.1:p.Gln1036= | |
| XM_011529594.1:c.3108A>G | XP_011527896.1:p.Gln1036= | |
| XM_005261124.5:c.3027A>G | XP_005261181.1:p.Gln1009= | |
| XM_011529594.3:c.3108A>G | XP_011527896.1:p.Gln1036= | |
| XM_017028362.2:c.3027A>G | XP_016883851.1:p.Gln1009= | |
| XM_017028363.1:c.2673A>G | XP_016883852.1:p.Gln891= | |
| XM_024452082.1:c.1911A>G | XP_024307850.1:p.Gln637= | |
| XM_024452083.1:c.807A>G | XP_024307851.1:p.Gln269= | |
| NM_006031.6:c.3027A>G MANE Select | NP_006022.3:p.Gln1009= | |
| NM_001315529.2:c.2673A>G | NP_001302458.1:p.Gln891= |