Linked Data
dbSNP Id:
rs1274895846
gnomAD v2:
3-10193584-C-G
gnomAD v3:
3-10151900-C-G
gnomAD v4:
3-10151900-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10151900C>G , CM000665.2:g.10151900C>G | GRCh38 |
| NC_000003.11:g.10193584C>G , CM000665.1:g.10193584C>G | GRCh37 |
| NC_000003.10:g.10168584C>G | NCBI36 |
| NG_008212.3:g.15266C>G , LRG_322:g.15266C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696143.1:c.2713C>G | ENSP00000512435.1:n.2713C>G | |
| ENST00000696153.1:c.*1935C>G | ENSP00000512444.1:n.*1935C>G | |
| ENST00000256474.3:c.*1935C>G MANE Select | ENSP00000256474.3:n.*1935C>G | |
| ENST00000256474.2:c.*1935C>G | ENSP00000256474.2:n.*1935C>G | |
| ENST00000345392.2:c.*1935C>G | ENSP00000344757.2:n.*1935C>G | |
| NM_000551.3:c.*1935C>G , LRG_322t1:c.*1935C>G | NP_000542.1:n.*1935C>G | |
| NM_198156.2:c.*1935C>G | NP_937799.1:n.*1935C>G | |
| NM_001354723.1:c.*2131C>G | NP_001341652.1:n.*2131C>G | |
| NM_000551.4:c.*1935C>G MANE Select | NP_000542.1:n.*1935C>G | |
| NM_001354723.2:c.*2131C>G | NP_001341652.1:n.*2131C>G | |
| NM_198156.3:c.*1935C>G | NP_937799.1:n.*1935C>G |