Linked Data
ClinVar Variation Id:
475692
dbSNP Id:
rs2229363
ExAC:
12:56737251 C / A
gnomAD v2:
12-56737251-C-A
gnomAD v3:
12-56343467-C-A
gnomAD v4:
12-56343467-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56343467C>A , CM000674.2:g.56343467C>A | GRCh38 |
| NC_000012.11:g.56737251C>A , CM000674.1:g.56737251C>A | GRCh37 |
| NC_000012.10:g.55023518C>A | NCBI36 |
| NG_046314.1:g.21787G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555488.2:n.2361G>T | ||
| ENST00000698178.1:n.3069G>T | ||
| ENST00000698179.1:n.3021G>T | ||
| ENST00000698180.1:c.*2233G>T | ENSP00000513597.1:n.*2233G>T | |
| ENST00000698181.1:n.3515G>T | ||
| ENST00000698182.1:n.3288G>T | ||
| ENST00000698183.1:n.3748G>T | ||
| ENST00000698184.1:n.3522G>T | ||
| ENST00000698185.1:n.3681G>T | ||
| ENST00000698186.1:c.2346G>T | ENSP00000513598.1:p.Gln782His | |
| ENST00000698187.1:n.2793G>T | ||
| ENST00000698188.1:n.3145G>T | ||
| ENST00000698189.1:n.4555G>T | ||
| ENST00000698190.1:n.3136G>T | ||
| ENST00000698191.1:n.3069G>T | ||
| ENST00000698192.1:c.2478G>T | ENSP00000513599.1:p.Gln826His | |
| ENST00000698193.1:c.*350G>T | ENSP00000513600.1:n.*350G>T | |
| ENST00000314128.9:c.2478G>T MANE Select | ENSP00000315768.4:p.Gln826His | |
| ENST00000556140.6:n.3250G>T | ||
| ENST00000650805.1:c.*1912G>T | ENSP00000498710.1:n.*1912G>T | |
| ENST00000651078.1:n.3131G>T | ||
| ENST00000651301.1:c.*2152G>T | ENSP00000498470.1:n.*2152G>T | |
| ENST00000651339.1:n.1213G>T | ||
| ENST00000651805.1:n.2867G>T | ||
| ENST00000651915.1:c.2379G>T | ENSP00000498876.1:p.Gln793His | |
| ENST00000651934.1:n.2918G>T | ||
| ENST00000651967.1:n.2593G>T | ||
| ENST00000652091.1:n.2996G>T | ||
| ENST00000652398.1:c.*2044G>T | ENSP00000499022.1:n.*2044G>T | |
| ENST00000652624.1:c.*1604G>T | ENSP00000499108.1:n.*1604G>T | |
| ENST00000652741.1:c.*2233G>T | ENSP00000498704.1:n.*2233G>T | |
| ENST00000314128.8:c.2478G>T | ENSP00000315768.4:p.Gln826His | |
| ENST00000556539.5:n.1408G>T | ||
| ENST00000557235.5:c.2466G>T | ENSP00000450751.1:p.Gln822His | |
| NM_005419.3:c.2478G>T | NP_005410.1:p.Gln826His | |
| NM_198332.1:c.2466G>T | NP_938146.1:p.Gln822His | |
| XM_011538697.1:c.2502G>T | XP_011536999.1:p.Gln834His | |
| XM_011538698.1:c.2490G>T | XP_011537000.1:p.Gln830His | |
| XM_011538700.1:c.1770G>T | XP_011537002.1:p.Gln590His | |
| XM_011538701.1:c.1533G>T | XP_011537003.1:p.Gln511His | |
| XM_011538697.2:c.2502G>T | XP_011536999.1:p.Gln834His | |
| XM_011538698.3:c.2490G>T | XP_011537000.1:p.Gln830His | |
| XM_011538700.2:c.1770G>T | XP_011537002.1:p.Gln590His | |
| XM_017019904.2:c.1746G>T | XP_016875393.1:p.Gln582His | |
| XR_001748856.1:n.2401G>T | ||
| XR_001748857.1:n.2482G>T | ||
| XR_001748858.2:n.2359G>T | ||
| XR_002957375.1:n.2773G>T | ||
| XR_002957376.1:n.2731G>T | ||
| NM_005419.4:c.2478G>T MANE Select | NP_005410.1:p.Gln826His | |
| NM_198332.2:c.2466G>T | NP_938146.1:p.Gln822His | |
| NM_001385110.1:c.2445G>T | NP_001372039.1:p.Gln815His | |
| NM_001385111.1:c.2379G>T | NP_001372040.1:p.Gln793His | |
| NM_001385113.1:c.*47G>T | NP_001372042.1:n.*47G>T | |
| NM_001385114.1:c.2457G>T | NP_001372043.1:p.Gln819His | |
| NM_001385115.1:c.2436G>T | NP_001372044.1:p.Gln812His |