Linked Data
ClinVar Variation Id:
1146821
ClinVar RCV Id:
RCV001486169
dbSNP Id:
rs761412978
ExAC:
12:88483217 A / G
gnomAD v2:
12-88483217-A-G
gnomAD v3:
12-88089440-A-G
gnomAD v4:
12-88089440-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88089440A>G , CM000674.2:g.88089440A>G | GRCh38 |
| NC_000012.11:g.88483217A>G , CM000674.1:g.88483217A>G | GRCh37 |
| NC_000012.10:g.87007348A>G | NCBI36 |
| NG_008417.1:g.57777T>C | |
| NG_008417.2:g.57777T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.3621T>C | ENSP00000308021.8:p.Asn1207= | |
| ENST00000547691.8:c.905T>C | ||
| ENST00000552810.6:c.3621T>C MANE Select | ENSP00000448012.1:p.Asn1207= | |
| ENST00000672414.2:c.*1792T>C | ENSP00000500729.1:n.*1792T>C | |
| ENST00000672647.1:n.1981T>C | ||
| ENST00000673058.2:c.3621T>C | ENSP00000500665.2:p.Asn1207= | |
| ENST00000674971.1:c.3621T>C | ENSP00000502194.1:p.Asn1207= | |
| ENST00000675089.1:c.446T>C | ENSP00000501582.1:n.446T>C | |
| ENST00000675230.1:c.3600T>C | ENSP00000502503.1:p.Asn1200= | |
| ENST00000675408.1:c.3621T>C | ENSP00000502298.1:p.Asn1207= | |
| ENST00000675476.1:c.4482T>C | ENSP00000502161.1:p.Asn1494= | |
| ENST00000675628.1:n.3848T>C | ||
| ENST00000675794.1:c.*1792T>C | ENSP00000502841.1:n.*1792T>C | |
| ENST00000675833.1:c.4389T>C | ENSP00000502559.1:p.Asn1463= | |
| ENST00000676074.1:c.3621T>C | ENSP00000502079.1:p.Asn1207= | |
| ENST00000676181.1:n.2549T>C | ||
| ENST00000676363.1:n.9347T>C | ||
| ENST00000676448.1:c.*1534T>C | ENSP00000501987.1:n.*1534T>C | |
| ENST00000309041.11:c.3627T>C | ENSP00000308021.7:p.Asn1209= | |
| ENST00000547691.6:c.801T>C | ENSP00000446905.1:p.Asn267= | |
| ENST00000552810.5:c.3621T>C | ENSP00000448012.1:p.Asn1207= | |
| NM_025114.3:c.3621T>C | NP_079390.3:p.Asn1207= | |
| XM_011538756.1:c.4482T>C | XP_011537058.1:p.Asn1494= | |
| XM_011538757.1:c.4482T>C | XP_011537059.1:p.Asn1494= | |
| XM_011538758.1:c.4482T>C | XP_011537060.1:p.Asn1494= | |
| XM_011538759.1:c.4482T>C | XP_011537061.1:p.Asn1494= | |
| XM_011538760.1:c.4482T>C | XP_011537062.1:p.Asn1494= | |
| XM_011538761.1:c.4482T>C | XP_011537063.1:p.Asn1494= | |
| XM_011538762.1:c.3714T>C | XP_011537064.1:p.Asn1238= | |
| XM_011538763.1:c.3621T>C | XP_011537065.1:p.Asn1207= | |
| XM_011538764.1:c.4482T>C | XP_011537066.1:p.Asn1494= | |
| XM_011538765.1:c.4482T>C | XP_011537067.1:p.Asn1494= | |
| XM_011538766.1:c.2943T>C | XP_011537068.1:p.Asn981= | |
| XM_011538756.3:c.4482T>C | XP_011537058.1:p.Asn1494= | |
| XM_011538757.3:c.4482T>C | XP_011537059.1:p.Asn1494= | |
| XM_011538758.3:c.4482T>C | XP_011537060.1:p.Asn1494= | |
| XM_011538759.2:c.4482T>C | XP_011537061.1:p.Asn1494= | |
| XM_011538760.2:c.4482T>C | XP_011537062.1:p.Asn1494= | |
| XM_011538761.2:c.4482T>C | XP_011537063.1:p.Asn1494= | |
| XM_011538762.3:c.3714T>C | XP_011537064.1:p.Asn1238= | |
| XM_011538763.3:c.3621T>C | XP_011537065.1:p.Asn1207= | |
| XM_011538764.3:c.4482T>C | XP_011537066.1:p.Asn1494= | |
| XM_011538765.3:c.4482T>C | XP_011537067.1:p.Asn1494= | |
| XM_011538766.3:c.2943T>C | XP_011537068.1:p.Asn981= | |
| XM_017019980.2:c.4482T>C | XP_016875469.1:p.Asn1494= | |
| XM_017019981.2:c.4482T>C | XP_016875470.1:p.Asn1494= | |
| XM_017019982.1:c.4482T>C | XP_016875471.1:p.Asn1494= | |
| XM_017019983.2:c.3600T>C | XP_016875472.1:p.Asn1200= | |
| XR_001748869.1:n.4826T>C | ||
| XR_001748870.2:n.4826T>C | ||
| NM_025114.4:c.3621T>C MANE Select | NP_079390.3:p.Asn1207= |