Linked Data
ClinVar Variation Id:
456321
dbSNP Id:
rs953994627
gnomAD v2:
16-3639372-T-C
gnomAD v3:
16-3589371-T-C
gnomAD v4:
16-3589371-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3589371T>C , CM000678.2:g.3589371T>C | GRCh38 |
| NC_000016.9:g.3639372T>C , CM000678.1:g.3639372T>C | GRCh37 |
| NC_000016.8:g.3579373T>C | NCBI36 |
| NG_028123.1:g.27214A>G , LRG_503:g.27214A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.4267A>G MANE Select | ENSP00000294008.3:p.Ile1423Val | |
| ENST00000294008.3:c.4267A>G | ENSP00000294008.3:p.Ile1423Val | |
| NM_032444.2:c.4267A>G , LRG_503t1:c.4267A>G | NP_115820.2:p.Ile1423Val | |
| XM_011522715.1:c.4267A>G | XP_011521017.1:p.Ile1423Val | |
| NM_032444.3:c.4267A>G | NP_115820.2:p.Ile1423Val | |
| XM_011522715.3:c.4267A>G | XP_011521017.1:p.Ile1423Val | |
| XM_017023775.2:c.3445A>G | XP_016879264.1:p.Ile1149Val | |
| XM_024450471.1:c.4267A>G | XP_024306239.1:p.Ile1423Val | |
| NM_032444.4:c.4267A>G MANE Select | NP_115820.2:p.Ile1423Val |