Linked Data
ClinVar Variation Id:
1497120
ClinVar RCV Id:
RCV002019353
dbSNP Id:
rs1233691599
gnomAD v2:
8-87588061-T-C
gnomAD v3:
8-86575833-T-C
gnomAD v4:
8-86575833-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575833T>C , CM000670.2:g.86575833T>C | GRCh38 |
| NC_000008.10:g.87588061T>C , CM000670.1:g.87588061T>C | GRCh37 |
| NC_000008.9:g.87657177T>C | NCBI36 |
| NG_016980.1:g.172843A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2401A>G MANE Select | ENSP00000316605.5:p.Ile801Val | |
| ENST00000681546.1:n.2221A>G | ||
| ENST00000681746.1:c.*812A>G | ENSP00000505959.1:n.*812A>G | |
| ENST00000320005.5:c.2401A>G | ENSP00000316605.5:p.Ile801Val | |
| ENST00000517327.5:c.276+2856A>G | ENSP00000428329.1:n.276+2856A>G | |
| NM_019098.4:c.2401A>G | NP_061971.3:p.Ile801Val | |
| XM_011517138.1:c.1987A>G | XP_011515440.1:p.Ile663Val | |
| XM_011517138.2:c.1987A>G | XP_011515440.1:p.Ile663Val | |
| NM_019098.5:c.2401A>G MANE Select | NP_061971.3:p.Ile801Val |