Linked Data
dbSNP Id:
rs10761741
gnomAD v2:
10-65066186-G-T
gnomAD v3:
10-63306426-G-T
gnomAD v4:
10-63306426-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.63306426G>T , CM000672.2:g.63306426G>T | GRCh38 |
| NC_000010.10:g.65066186G>T , CM000672.1:g.65066186G>T | GRCh37 |
| NC_000010.9:g.64736192G>T | NCBI36 |
| NG_053187.1:g.220650C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399262.7:c.334-41662C>A MANE Select | ENSP00000382204.2:n.334-41662C>A | |
| ENST00000399262.6:c.334-41662C>A | ENSP00000382204.2:n.334-41662C>A | |
| ENST00000633035.1:n.279-41662C>A | ||
| NM_032776.2:c.334-41662C>A | NP_116165.1:n.334-41662C>A | |
| XM_011539502.1:c.-213-41662C>A | XP_011537804.1:n.-213-41662C>A | |
| XM_011539503.1:c.-213-41662C>A | XP_011537805.1:n.-213-41662C>A | |
| XM_011539504.1:c.-213-41662C>A | XP_011537806.1:n.-213-41662C>A | |
| XM_011539507.1:c.-213-41662C>A | XP_011537809.1:n.-213-41662C>A | |
| XM_011539508.1:c.-213-41662C>A | XP_011537810.1:n.-213-41662C>A | |
| XR_945628.1:n.166-41662C>A | ||
| XR_945629.1:n.166-41662C>A | ||
| NM_001318154.1:c.-213-41662C>A | NP_001305083.1:n.-213-41662C>A | |
| NM_001322252.1:c.333+73892C>A | NP_001309181.1:n.333+73892C>A | |
| NM_001322258.1:c.-218-41662C>A | NP_001309187.1:n.-218-41662C>A | |
| XM_011539508.2:c.-213-41662C>A | XP_011537810.1:n.-213-41662C>A | |
| XM_017015897.1:c.-100+73892C>A | XP_016871386.1:n.-100+73892C>A | |
| XM_017015898.1:c.-213-41662C>A | XP_016871387.1:n.-213-41662C>A | |
| XM_017015899.1:c.-535-41662C>A | XP_016871388.1:n.-535-41662C>A | |
| XM_017015900.1:c.-535-41662C>A | XP_016871389.1:n.-535-41662C>A | |
| XM_017015901.1:c.-429-41662C>A | XP_016871390.1:n.-429-41662C>A | |
| XM_017015902.1:c.-429-41662C>A | XP_016871391.1:n.-429-41662C>A | |
| XM_017015903.1:c.-316+73892C>A | XP_016871392.1:n.-316+73892C>A | |
| XM_024447882.1:c.-218-41662C>A | XP_024303650.1:n.-218-41662C>A | |
| XM_024447883.1:c.-105+73892C>A | XP_024303651.1:n.-105+73892C>A | |
| NM_032776.3:c.334-41662C>A MANE Select | NP_116165.1:n.334-41662C>A | |
| NM_001318154.2:c.-213-41662C>A | NP_001305083.1:n.-213-41662C>A | |
| NM_001322252.2:c.333+73892C>A | NP_001309181.1:n.333+73892C>A | |
| NM_001322258.2:c.-218-41662C>A | NP_001309187.1:n.-218-41662C>A |