Linked Data
dbSNP Id:
rs11643447
gnomAD v2:
16-6699261-A-T
gnomAD v3:
16-6649260-A-T
gnomAD v4:
16-6649260-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.6649260A>T , CM000678.2:g.6649260A>T | GRCh38 |
| NC_000016.9:g.6699261A>T , CM000678.1:g.6699261A>T | GRCh37 |
| NC_000016.8:g.6639262A>T | NCBI36 |
| NG_011881.1:g.635130A>T | |
| NG_011881.2:g.1414509A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000550418.6:c.-63-5343A>T MANE Select | ENSP00000450031.1:n.-63-5343A>T | |
| ENST00000569895.3:n.500-5343A>T | ||
| ENST00000641259.1:c.415-5343A>T | ENSP00000493041.1:n.415-5343A>T | |
| ENST00000675140.1:n.528-5343A>T | ||
| ENST00000675459.1:c.-145-5343A>T | ENSP00000502616.1:n.-145-5343A>T | |
| ENST00000675653.1:c.-145-5343A>T | ENSP00000502718.1:n.-145-5343A>T | |
| ENST00000675842.1:c.-342-5343A>T | ENSP00000501599.1:n.-342-5343A>T | |
| ENST00000422070.8:c.67-5343A>T | ENSP00000391269.4:n.67-5343A>T | |
| ENST00000535565.6:c.46-5343A>T | ENSP00000438768.2:n.46-5343A>T | |
| ENST00000547372.5:c.67-5343A>T | ENSP00000446842.1:n.67-5343A>T | |
| ENST00000547427.5:n.222-5343A>T | ||
| ENST00000547605.5:c.-63-5343A>T | ENSP00000450402.1:n.-63-5343A>T | |
| ENST00000548749.5:n.354-5343A>T | ||
| ENST00000550418.5:c.-63-5343A>T | ENSP00000450031.1:n.-63-5343A>T | |
| ENST00000551752.5:c.-63-5343A>T | ENSP00000447281.1:n.-63-5343A>T | |
| ENST00000552089.5:c.46-5343A>T | ENSP00000448496.1:n.46-5343A>T | |
| ENST00000553186.5:c.-63-5343A>T | ENSP00000447753.1:n.-63-5343A>T | |
| NM_001142333.1:c.-63-5343A>T | NP_001135805.1:n.-63-5343A>T | |
| NM_001308117.1:c.67-5343A>T | NP_001295046.1:n.67-5343A>T | |
| NM_018723.3:c.-63-5343A>T | NP_061193.2:n.-63-5343A>T | |
| XM_005255379.2:c.67-5343A>T | XP_005255436.1:n.67-5343A>T | |
| XM_005255380.2:c.46-5343A>T | XP_005255437.1:n.46-5343A>T | |
| XM_005255384.2:c.-63-5343A>T | XP_005255441.1:n.-63-5343A>T | |
| XM_005255385.3:c.-63-5343A>T | XP_005255442.1:n.-63-5343A>T | |
| XM_005255390.2:c.-63-5343A>T | XP_005255447.1:n.-63-5343A>T | |
| XM_005255391.2:c.-63-5343A>T | XP_005255448.1:n.-63-5343A>T | |
| XM_011522544.1:c.415-5343A>T | XP_011520846.1:n.415-5343A>T | |
| NM_001364800.1:c.-63-5343A>T | NP_001351729.1:n.-63-5343A>T | |
| XM_005255390.4:c.-63-5343A>T | XP_005255447.1:n.-63-5343A>T | |
| XM_005255391.4:c.-63-5343A>T | XP_005255448.1:n.-63-5343A>T | |
| XM_017023318.2:c.535-5343A>T | XP_016878807.1:n.535-5343A>T | |
| XM_017023319.2:c.535-5343A>T | XP_016878808.1:n.535-5343A>T | |
| XM_017023320.2:c.67-5343A>T | XP_016878809.1:n.67-5343A>T | |
| XM_017023321.2:c.46-5343A>T | XP_016878810.1:n.46-5343A>T | |
| XM_017023322.2:c.46-5343A>T | XP_016878811.1:n.46-5343A>T | |
| XM_017023324.2:c.67-5343A>T | XP_016878813.1:n.67-5343A>T | |
| XM_017023326.2:c.-63-5343A>T | XP_016878815.1:n.-63-5343A>T | |
| XM_017023328.2:c.67-5343A>T | XP_016878817.1:n.67-5343A>T | |
| XM_017023329.2:c.67-5343A>T | XP_016878818.1:n.67-5343A>T | |
| XM_017023330.1:c.46-5343A>T | XP_016878819.1:n.46-5343A>T | |
| XM_017023333.1:c.-63-5343A>T | XP_016878822.1:n.-63-5343A>T | |
| XM_017023335.2:c.-63-5343A>T | XP_016878824.1:n.-63-5343A>T | |
| XM_017023336.1:c.-63-5343A>T | XP_016878825.1:n.-63-5343A>T | |
| XM_017023338.1:c.-63-5343A>T | XP_016878827.1:n.-63-5343A>T | |
| XM_017023340.1:c.-63-5343A>T | XP_016878829.1:n.-63-5343A>T | |
| XM_017023341.2:c.-63-5343A>T | XP_016878830.1:n.-63-5343A>T | |
| XM_017023342.1:c.-63-5343A>T | XP_016878831.1:n.-63-5343A>T | |
| XM_024450303.1:c.496-5343A>T | XP_024306071.1:n.496-5343A>T | |
| XM_024450304.1:c.46-5343A>T | XP_024306072.1:n.46-5343A>T | |
| XM_024450305.1:c.46-5343A>T | XP_024306073.1:n.46-5343A>T | |
| XM_024450307.1:c.-63-5343A>T | XP_024306075.1:n.-63-5343A>T | |
| XM_024450309.1:c.67-5343A>T | XP_024306077.1:n.67-5343A>T | |
| XM_024450310.1:c.67-5343A>T | XP_024306078.1:n.67-5343A>T | |
| XM_024450311.1:c.46-5343A>T | XP_024306079.1:n.46-5343A>T | |
| XM_024450312.1:c.46-5343A>T | XP_024306080.1:n.46-5343A>T | |
| XM_024450313.1:c.46-5343A>T | XP_024306081.1:n.46-5343A>T | |
| XM_024450314.1:c.67-5343A>T | XP_024306082.1:n.67-5343A>T | |
| XM_024450316.1:c.-63-5343A>T | XP_024306084.1:n.-63-5343A>T | |
| NM_001142333.2:c.-63-5343A>T | NP_001135805.1:n.-63-5343A>T | |
| NM_001364800.2:c.-63-5343A>T | NP_001351729.1:n.-63-5343A>T | |
| NM_018723.4:c.-63-5343A>T MANE Select | NP_061193.2:n.-63-5343A>T |