Linked Data
ClinVar Variation Id:
2735423
ClinVar RCV Id:
RCV003525313
dbSNP Id:
rs1057517759
gnomAD v3:
10-80274641-T-C
gnomAD v4:
10-80274641-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274641T>C , CM000672.2:g.80274641T>C | GRCh38 |
| NC_000010.10:g.82034397T>C , CM000672.1:g.82034397T>C | GRCh37 |
| NC_000010.9:g.82024377T>C | NCBI36 |
| NG_008083.1:g.20038A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372213.8:c.964A>G MANE Select | ENSP00000361287.3:p.Ile322Val | |
| ENST00000372213.7:c.964A>G | ENSP00000361287.3:p.Ile322Val | |
| ENST00000480845.1:n.196A>G | ||
| ENST00000485270.5:n.476A>G | ||
| NM_000429.2:c.964A>G | NP_000420.1:p.Ile322Val | |
| XM_005269842.3:c.964A>G | XP_005269899.1:p.Ile322Val | |
| XM_005269843.3:c.841A>G | XP_005269900.1:p.Ile281Val | |
| NM_000429.3:c.964A>G MANE Select | NP_000420.1:p.Ile322Val |