Linked Data
dbSNP Id:
rs1358942274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14208661A>G , CM000679.2:g.14208661A>G | GRCh38 |
| NC_000017.10:g.14111978A>G , CM000679.1:g.14111978A>G | GRCh37 |
| NC_000017.9:g.14052703A>G | NCBI36 |
| NG_008034.1:g.144260A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.*1448A>G MANE Select | ENSP00000261643.3:n.*1448A>G | |
| ENST00000664217.1:c.*163A>G | ENSP00000499396.1:n.*163A>G | |
| ENST00000670279.1:c.929-848A>G | ENSP00000499450.1:n.929-848A>G | |
| ENST00000261643.7:c.*1448A>G | ENSP00000261643.3:n.*1448A>G | |
| NM_001303.3:c.*1448A>G | NP_001294.2:n.*1448A>G | |
| XM_011523658.1:c.*1448A>G | XP_011521960.1:n.*1448A>G | |
| XR_933974.1:n.1032-848A>G | ||
| NM_001303.4:c.*1448A>G MANE Select | NP_001294.2:n.*1448A>G |