Linked Data
ClinVar Variation Id:
18401
dbSNP Id:
rs267607035
ExAC:
4:25153671 C / T
gnomAD v2:
4-25153671-C-T
gnomAD v3:
4-25152049-C-T
gnomAD v4:
4-25152049-C-T
PubMed:
PMID:20920667
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25152049C>T , CM000666.2:g.25152049C>T | GRCh38 |
| NC_000004.11:g.25153671C>T , CM000666.1:g.25153671C>T | GRCh37 |
| NC_000004.10:g.24762769C>T | NCBI36 |
| NG_028222.1:g.13534G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382103.7:c.715G>A MANE Select | ENSP00000371535.2:p.Ala239Thr | |
| ENST00000680581.1:c.715G>A | ENSP00000506483.1:p.Ala239Thr | |
| ENST00000680824.1:n.1931G>A | ||
| ENST00000681071.1:n.1007G>A | ||
| ENST00000681341.1:n.1856G>A | ||
| ENST00000681948.1:c.970G>A | ENSP00000505991.1:p.Ala324Thr | |
| ENST00000358971.7:c.*513G>A | ENSP00000351857.3:n.*513G>A | |
| ENST00000382103.6:c.715G>A | ENSP00000371535.2:p.Ala239Thr | |
| ENST00000503150.1:c.216+2949G>A | ||
| ENST00000505513.1:n.234+2949G>A | ||
| ENST00000514585.5:c.*416G>A | ENSP00000421880.1:n.*416G>A | |
| NM_016955.3:c.715G>A | NP_058651.3:p.Ala239Thr | |
| XM_005248168.2:c.478G>A | XP_005248225.1:p.Ala160Thr | |
| XM_006713965.2:c.535G>A | XP_006714028.1:p.Ala179Thr | |
| XM_011513846.1:c.712G>A | XP_011512148.1:p.Ala238Thr | |
| XM_011513847.1:c.682G>A | XP_011512149.1:p.Ala228Thr | |
| XM_011513848.1:c.535G>A | XP_011512150.1:p.Ala179Thr | |
| XM_011513846.2:c.712G>A | XP_011512148.1:p.Ala238Thr | |
| XM_011513847.2:c.682G>A | XP_011512149.1:p.Ala228Thr | |
| XM_017008277.1:c.970G>A | XP_016863766.1:p.Ala324Thr | |
| XM_017008278.1:c.292G>A | XP_016863767.1:p.Ala98Thr | |
| NM_016955.4:c.715G>A MANE Select | NP_058651.3:p.Ala239Thr |