Linked Data
dbSNP Id:
rs776674503
ExAC:
22:25144958 G / T
gnomAD v2:
22-25144958-G-T
gnomAD v4:
22-24748991-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24748991G>T , CM000684.2:g.24748991G>T | GRCh38 |
| NC_000022.10:g.25144958G>T , CM000684.1:g.25144958G>T | GRCh37 |
| NC_000022.9:g.23474958G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527701.6:c.*1337C>A | ENSP00000435718.2:n.*1337C>A | |
| ENST00000533313.6:c.*1291C>A | ENSP00000431843.2:n.*1291C>A | |
| ENST00000616349.5:c.1365C>A MANE Select | ENSP00000479524.2:p.Leu455= | |
| ENST00000332271.9:c.1365C>A | ENSP00000330031.5:p.Leu455= | |
| ENST00000527701.5:c.1038C>A | ENSP00000435718.1:p.Leu346= | |
| ENST00000532537.2:n.1786C>A | ||
| ENST00000533313.5:c.1038C>A | ENSP00000431843.1:p.Leu346= | |
| ENST00000616349.4:c.1365C>A | ENSP00000479524.1:p.Leu455= | |
| NM_001008496.3:c.1365C>A | NP_001008496.2:p.Leu455= | |
| NM_001255975.1:c.1365C>A MANE Select | NP_001242904.1:p.Leu455= | |
| NR_045648.1:n.1996C>A | ||
| NR_045649.1:n.1869C>A | ||
| NR_045649.2:n.1869C>A |