Linked Data
ClinVar Variation Id:
289102
dbSNP Id:
rs149121189
ExAC:
4:52890312 G / A
gnomAD v2:
4-52890312-G-A
gnomAD v3:
4-52024146-G-A
gnomAD v4:
4-52024146-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52024146G>A , CM000666.2:g.52024146G>A | GRCh38 |
| NC_000004.11:g.52890312G>A , CM000666.1:g.52890312G>A | GRCh37 |
| NC_000004.10:g.52585069G>A | NCBI36 |
| NG_008891.1:g.19174C>T , LRG_204:g.19174C>T | |
| NG_053164.1:g.1166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.768C>T MANE Select | ENSP00000370839.6:p.Ile256= | |
| ENST00000381431.9:c.768C>T | ENSP00000370839.5:p.Ile256= | |
| NM_000232.4:c.768C>T , LRG_204t1:c.768C>T | NP_000223.1:p.Ile256= | |
| XM_006714049.2:c.471C>T | XP_006714112.1:p.Ile157= | |
| XM_011534403.1:c.558C>T | XP_011532705.1:p.Ile186= | |
| XM_011534404.1:c.471C>T | XP_011532706.1:p.Ile157= | |
| NM_000232.5:c.768C>T MANE Select | NP_000223.1:p.Ile256= |