Linked Data
ClinVar Variation Id:
363877
dbSNP Id:
rs886063162
gnomAD v2:
8-87679232-A-G
gnomAD v3:
8-86667004-A-G
gnomAD v4:
8-86667004-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86667004A>G , CM000670.2:g.86667004A>G | GRCh38 |
| NC_000008.10:g.87679232A>G , CM000670.1:g.87679232A>G | GRCh37 |
| NC_000008.9:g.87748348A>G | NCBI36 |
| NG_016980.1:g.81672T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.773T>C MANE Select | ENSP00000316605.5:p.Ile258Thr | |
| ENST00000681746.1:c.773T>C | ENSP00000505959.1:p.Ile258Thr | |
| ENST00000320005.5:c.773T>C | ENSP00000316605.5:p.Ile258Thr | |
| NM_019098.4:c.773T>C | NP_061971.3:p.Ile258Thr | |
| XM_011517138.1:c.359T>C | XP_011515440.1:p.Ile120Thr | |
| XM_011517138.2:c.359T>C | XP_011515440.1:p.Ile120Thr | |
| NM_019098.5:c.773T>C MANE Select | NP_061971.3:p.Ile258Thr |