Linked Data
dbSNP Id:
rs7498702
gnomAD v2:
16-6527348-T-C
gnomAD v3:
16-6477347-T-C
gnomAD v4:
16-6477347-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.6477347T>C , CM000678.2:g.6477347T>C | GRCh38 |
| NC_000016.9:g.6527348T>C , CM000678.1:g.6527348T>C | GRCh37 |
| NC_000016.8:g.6467349T>C | NCBI36 |
| NG_011881.1:g.463217T>C | |
| NG_011881.2:g.1242596T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000550418.6:c.-64+160290T>C MANE Select | ENSP00000450031.1:n.-64+160290T>C | |
| ENST00000569895.3:n.499+160290T>C | ||
| ENST00000641259.1:c.414+160290T>C | ENSP00000493041.1:n.414+160290T>C | |
| ENST00000422070.8:c.66+160290T>C | ENSP00000391269.4:n.66+160290T>C | |
| ENST00000547372.5:c.66+160290T>C | ENSP00000446842.1:n.66+160290T>C | |
| ENST00000547605.5:c.-64+160290T>C | ENSP00000450402.1:n.-64+160290T>C | |
| ENST00000548749.5:n.353+160290T>C | ||
| ENST00000550418.5:c.-64+160290T>C | ENSP00000450031.1:n.-64+160290T>C | |
| ENST00000553186.5:c.-64+160290T>C | ENSP00000447753.1:n.-64+160290T>C | |
| NM_001142333.1:c.-64+160290T>C | NP_001135805.1:n.-64+160290T>C | |
| NM_001308117.1:c.66+160290T>C | NP_001295046.1:n.66+160290T>C | |
| NM_018723.3:c.-64+160290T>C | NP_061193.2:n.-64+160290T>C | |
| XM_005255379.2:c.66+160290T>C | XP_005255436.1:n.66+160290T>C | |
| XM_005255384.2:c.-64+160290T>C | XP_005255441.1:n.-64+160290T>C | |
| XM_005255390.2:c.-64+160290T>C | XP_005255447.1:n.-64+160290T>C | |
| XM_011522544.1:c.414+160290T>C | XP_011520846.1:n.414+160290T>C | |
| NM_001364800.1:c.-64+160290T>C | NP_001351729.1:n.-64+160290T>C | |
| XM_005255390.4:c.-64+160290T>C | XP_005255447.1:n.-64+160290T>C | |
| XM_017023318.2:c.534+160290T>C | XP_016878807.1:n.534+160290T>C | |
| XM_017023319.2:c.534+160290T>C | XP_016878808.1:n.534+160290T>C | |
| XM_017023320.2:c.66+160290T>C | XP_016878809.1:n.66+160290T>C | |
| XM_017023324.2:c.66+160290T>C | XP_016878813.1:n.66+160290T>C | |
| XM_017023326.2:c.-64+160290T>C | XP_016878815.1:n.-64+160290T>C | |
| XM_017023328.2:c.66+160290T>C | XP_016878817.1:n.66+160290T>C | |
| XM_017023329.2:c.66+160290T>C | XP_016878818.1:n.66+160290T>C | |
| XM_017023335.2:c.-64+160290T>C | XP_016878824.1:n.-64+160290T>C | |
| XM_017023341.2:c.-64+160290T>C | XP_016878830.1:n.-64+160290T>C | |
| XM_024450303.1:c.495+160290T>C | XP_024306071.1:n.495+160290T>C | |
| XM_024450307.1:c.-64+160290T>C | XP_024306075.1:n.-64+160290T>C | |
| XM_024450309.1:c.66+160290T>C | XP_024306077.1:n.66+160290T>C | |
| XM_024450310.1:c.66+160290T>C | XP_024306078.1:n.66+160290T>C | |
| XM_024450314.1:c.66+160290T>C | XP_024306082.1:n.66+160290T>C | |
| XM_024450316.1:c.-64+160290T>C | XP_024306084.1:n.-64+160290T>C | |
| NM_001142333.2:c.-64+160290T>C | NP_001135805.1:n.-64+160290T>C | |
| NM_001364800.2:c.-64+160290T>C | NP_001351729.1:n.-64+160290T>C | |
| NM_018723.4:c.-64+160290T>C MANE Select | NP_061193.2:n.-64+160290T>C |