Linked Data
dbSNP Id:
rs1247130463
gnomAD v2:
21-47786890-C-G
gnomAD v3:
21-46366975-C-G
gnomAD v4:
21-46366975-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46366975C>G , CM000683.2:g.46366975C>G | GRCh38 |
| NC_000021.8:g.47786890C>G , CM000683.1:g.47786890C>G | GRCh37 |
| NC_000021.7:g.46611318C>G | NCBI36 |
| NG_008961.1:g.47855C>G | |
| NG_008961.2:g.47854C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.*1497C>G | ENSP00000511987.1:n.*1497C>G | |
| ENST00000695525.1:n.3087C>G | ||
| ENST00000695558.1:c.3001C>G | ENSP00000512015.1:p.Leu1001Val | |
| ENST00000703224.1:c.*2244C>G | ENSP00000515242.1:n.*2244C>G | |
| ENST00000359568.10:c.3001C>G MANE Select | ENSP00000352572.5:p.Leu1001Val | |
| ENST00000359568.9:c.3001C>G | ENSP00000352572.5:p.Leu1001Val | |
| ENST00000480896.5:n.3270C>G | ||
| NM_001315529.1:c.2647C>G | NP_001302458.1:p.Leu883Val | |
| NM_006031.5:c.3001C>G | NP_006022.3:p.Leu1001Val | |
| XM_005261124.3:c.3001C>G | XP_005261181.1:p.Leu1001Val | |
| XM_011529593.1:c.3082C>G | XP_011527895.1:p.Leu1028Val | |
| XM_011529594.1:c.3082C>G | XP_011527896.1:p.Leu1028Val | |
| XM_005261124.5:c.3001C>G | XP_005261181.1:p.Leu1001Val | |
| XM_011529594.3:c.3082C>G | XP_011527896.1:p.Leu1028Val | |
| XM_017028362.2:c.3001C>G | XP_016883851.1:p.Leu1001Val | |
| XM_017028363.1:c.2647C>G | XP_016883852.1:p.Leu883Val | |
| XM_024452082.1:c.1885C>G | XP_024307850.1:p.Leu629Val | |
| XM_024452083.1:c.781C>G | XP_024307851.1:p.Leu261Val | |
| NM_006031.6:c.3001C>G MANE Select | NP_006022.3:p.Leu1001Val | |
| NM_001315529.2:c.2647C>G | NP_001302458.1:p.Leu883Val |