Linked Data
dbSNP Id:
rs149033400
ExAC:
22:25144894 T / C
gnomAD v2:
22-25144894-T-C
gnomAD v3:
22-24748927-T-C
gnomAD v4:
22-24748927-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24748927T>C , CM000684.2:g.24748927T>C | GRCh38 |
| NC_000022.10:g.25144894T>C , CM000684.1:g.25144894T>C | GRCh37 |
| NC_000022.9:g.23474894T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527701.6:c.*1401A>G | ENSP00000435718.2:n.*1401A>G | |
| ENST00000533313.6:c.*1355A>G | ENSP00000431843.2:n.*1355A>G | |
| ENST00000616349.5:c.1429A>G MANE Select | ENSP00000479524.2:p.Ile477Val | |
| ENST00000332271.9:c.1429A>G | ENSP00000330031.5:p.Ile477Val | |
| ENST00000527701.5:c.1102A>G | ENSP00000435718.1:p.Ile368Val | |
| ENST00000532537.2:n.1850A>G | ||
| ENST00000533313.5:c.1102A>G | ENSP00000431843.1:p.Ile368Val | |
| ENST00000616349.4:c.1429A>G | ENSP00000479524.1:p.Ile477Val | |
| NM_001008496.3:c.1429A>G | NP_001008496.2:p.Ile477Val | |
| NM_001255975.1:c.1429A>G MANE Select | NP_001242904.1:p.Ile477Val | |
| NR_045648.1:n.2060A>G | ||
| NR_045649.1:n.1933A>G | ||
| NR_045649.2:n.1933A>G |