Linked Data
ClinVar Variation Id:
1977484
ClinVar RCV Id:
RCV002750748
dbSNP Id:
rs546271483
ExAC:
20:745858 G / A
gnomAD v2:
20-745858-G-A
gnomAD v3:
20-765214-G-A
gnomAD v4:
20-765214-G-A
COSMIC:
COSM274269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.765214G>A , CM000682.2:g.765214G>A | GRCh38 |
| NC_000020.10:g.745858G>A , CM000682.1:g.745858G>A | GRCh37 |
| NC_000020.9:g.693858G>A | NCBI36 |
| NG_027687.1:g.8371C>T | |
| NG_027687.2:g.15772C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381944.5:c.561C>T | ENSP00000371370.3:p.Ile187= | |
| ENST00000473664.2:c.561C>T | ENSP00000502741.1:p.Ile187= | |
| ENST00000488495.3:c.561C>T | ENSP00000494009.1:p.Ile187= | |
| ENST00000645534.1:c.561C>T MANE Select | ENSP00000494193.1:p.Ile187= | |
| ENST00000675066.1:c.561C>T | ENSP00000501902.1:p.Ile187= | |
| ENST00000676154.1:c.561C>T | ENSP00000501807.1:p.Ile187= | |
| ENST00000217254.11:c.561C>T | ENSP00000217254.7:p.Ile187= | |
| ENST00000381944.4:c.561C>T | ENSP00000371370.3:p.Ile187= | |
| ENST00000473664.1:n.612C>T | ||
| ENST00000632431.1:c.561C>T | ENSP00000488723.1:p.Ile187= | |
| NM_033409.3:c.561C>T | NP_212134.3:p.Ile187= | |
| XM_005260655.3:c.561C>T | XP_005260712.1:p.Ile187= | |
| XM_011529148.1:c.561C>T | XP_011527450.1:p.Ile187= | |
| XM_005260655.4:c.561C>T | XP_005260712.1:p.Ile187= | |
| XM_024451821.1:c.561C>T | XP_024307589.1:p.Ile187= | |
| NM_033409.4:c.561C>T MANE Select | NP_212134.3:p.Ile187= | |
| NM_001370085.1:c.561C>T | NP_001357014.1:p.Ile187= | |
| NM_001370086.1:c.561C>T | NP_001357015.1:p.Ile187= |