Linked Data
ClinVar Variation Id:
2896611
ClinVar RCV Id:
RCV003730996
dbSNP Id:
rs775785344
gnomAD v4:
17-10639093-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10639093T>C , CM000679.2:g.10639093T>C | GRCh38 |
| NC_000017.10:g.10542410T>C , CM000679.1:g.10542410T>C | GRCh37 |
| NC_000017.9:g.10483135T>C | NCBI36 |
| NG_011537.1:g.23206A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583535.6:c.3199A>G MANE Select | ENSP00000464317.1:p.Ile1067Val | |
| ENST00000583535.5:c.3199A>G | ENSP00000464317.1:p.Ile1067Val | |
| NM_002470.3:c.3199A>G | NP_002461.2:p.Ile1067Val | |
| XM_011523870.1:c.3199A>G | XP_011522172.1:p.Ile1067Val | |
| XM_011523871.1:c.3199A>G | XP_011522173.1:p.Ile1067Val | |
| XM_011523872.1:c.3199A>G | XP_011522174.1:p.Ile1067Val | |
| XM_011523870.3:c.3199A>G | XP_011522172.1:p.Ile1067Val | |
| XM_011523871.2:c.3199A>G | XP_011522173.1:p.Ile1067Val | |
| NM_002470.4:c.3199A>G MANE Select | NP_002461.2:p.Ile1067Val |