Linked Data
dbSNP Id:
rs1342723781
gnomAD v2:
22-25144889-C-T
gnomAD v3:
22-24748922-C-T
gnomAD v4:
22-24748922-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24748922C>T , CM000684.2:g.24748922C>T | GRCh38 |
| NC_000022.10:g.25144889C>T , CM000684.1:g.25144889C>T | GRCh37 |
| NC_000022.9:g.23474889C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527701.6:c.*1406G>A | ENSP00000435718.2:n.*1406G>A | |
| ENST00000533313.6:c.*1360G>A | ENSP00000431843.2:n.*1360G>A | |
| ENST00000616349.5:c.1434G>A MANE Select | ENSP00000479524.2:p.Val478= | |
| ENST00000332271.9:c.1434G>A | ENSP00000330031.5:p.Val478= | |
| ENST00000527701.5:c.1107G>A | ENSP00000435718.1:p.Val369= | |
| ENST00000532537.2:n.1855G>A | ||
| ENST00000533313.5:c.1107G>A | ENSP00000431843.1:p.Val369= | |
| ENST00000616349.4:c.1434G>A | ENSP00000479524.1:p.Val478= | |
| NM_001008496.3:c.1434G>A | NP_001008496.2:p.Val478= | |
| NM_001255975.1:c.1434G>A MANE Select | NP_001242904.1:p.Val478= | |
| NR_045648.1:n.2065G>A | ||
| NR_045649.1:n.1938G>A | ||
| NR_045649.2:n.1938G>A |