Linked Data
ClinVar Variation Id:
223
dbSNP Id:
rs121964908
ExAC:
4:178360822 G / A
gnomAD v2:
4-178360822-G-A
gnomAD v4:
4-177439668-G-A
PubMed:
PMID:1722323
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439668G>A , CM000666.2:g.177439668G>A | GRCh38 |
| NC_000004.11:g.178360822G>A , CM000666.1:g.178360822G>A | GRCh37 |
| NC_000004.10:g.178597816G>A | NCBI36 |
| NG_011845.2:g.7836C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.302C>T MANE Select | ENSP00000264595.2:p.Ala101Val | |
| ENST00000264595.6:c.302C>T | ENSP00000264595.2:p.Ala101Val | |
| ENST00000506853.5:n.336C>T | ||
| ENST00000510955.5:n.315+605C>T | ||
| NM_000027.3:c.302C>T | NP_000018.2:p.Ala101Val | |
| NM_001171988.1:c.302C>T | NP_001165459.1:p.Ala101Val | |
| NR_033655.1:n.430C>T | ||
| XM_006714123.2:c.302C>T | XP_006714186.1:p.Ala101Val | |
| XR_001741155.2:n.396C>T | ||
| NM_000027.4:c.302C>T MANE Select | NP_000018.2:p.Ala101Val | |
| NM_001171988.2:c.302C>T | NP_001165459.1:p.Ala101Val | |
| NR_033655.2:n.364C>T |