Linked Data
ClinVar Variation Id:
310848
ClinVar RCV Id:
RCV000364451
dbSNP Id:
rs146870931
ExAC:
13:101167818 C / T
gnomAD v2:
13-101167818-C-T
gnomAD v3:
13-100515564-C-T
gnomAD v4:
13-100515564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100515564C>T , CM000675.2:g.100515564C>T | GRCh38 |
| NC_000013.10:g.101167818C>T , CM000675.1:g.101167818C>T | GRCh37 |
| NC_000013.9:g.99965819C>T | NCBI36 |
| NG_008768.1:g.431482C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.2037C>T MANE Select | ENSP00000365462.1:p.Asp679= | |
| ENST00000636366.1:c.1235C>T | ||
| ENST00000636475.1:c.1552C>T | ||
| ENST00000637657.1:c.1697C>T | ||
| ENST00000647303.1:c.*1521C>T | ENSP00000495663.1:n.*1521C>T | |
| ENST00000376279.7:c.1900-12111C>T | ENSP00000365456.3:n.1900-12111C>T | |
| ENST00000376285.5:c.2037C>T | ENSP00000365462.1:p.Asp679= | |
| ENST00000376286.8:c.1959C>T | ENSP00000365463.4:p.Asp653= | |
| ENST00000428969.1:c.138C>T | ENSP00000399413.1:p.Asp46= | |
| ENST00000458283.5:c.257-12111C>T | ||
| NM_000282.3:c.2037C>T | NP_000273.2:p.Asp679= | |
| NM_001127692.2:c.1959C>T | NP_001121164.1:p.Asp653= | |
| NM_001178004.1:c.1900-12111C>T | NP_001171475.1:n.1900-12111C>T | |
| XR_931615.1:n.1898-12111C>T | ||
| NM_001352605.1:c.1983C>T | NP_001339534.1:p.Asp661= | |
| NM_001352606.1:c.1893C>T | NP_001339535.1:p.Asp631= | |
| NM_001352607.1:c.1822-12111C>T | NP_001339536.1:n.1822-12111C>T | |
| NM_001352608.1:c.1815C>T | NP_001339537.1:p.Asp605= | |
| NM_001352610.1:c.1092C>T | NP_001339539.1:p.Asp364= | |
| NM_001352611.1:c.1038C>T | NP_001339540.1:p.Asp346= | |
| NM_001352612.1:c.948C>T | NP_001339541.1:p.Asp316= | |
| NR_148027.1:n.2090-12111C>T | ||
| NR_148028.1:n.2124C>T | ||
| NR_148029.1:n.2046C>T | ||
| NR_148030.1:n.2227C>T | ||
| NR_148031.1:n.2040C>T | ||
| XM_017020609.1:c.1938C>T | XP_016876098.1:p.Asp646= | |
| XM_017020612.1:c.*70C>T | XP_016876101.1:n.*70C>T | |
| XM_017020613.1:c.1979-12111C>T | XP_016876102.1:n.1979-12111C>T | |
| XR_001749567.1:n.2217C>T | ||
| XR_001749568.1:n.2304C>T | ||
| XR_001749569.1:n.2167-12111C>T | ||
| XR_001749574.1:n.2073C>T | ||
| XR_001749576.1:n.1774C>T | ||
| XR_001749577.1:n.1671C>T | ||
| NM_000282.4:c.2037C>T MANE Select | NP_000273.2:p.Asp679= | |
| NM_001352605.2:c.1983C>T | NP_001339534.1:p.Asp661= | |
| NM_001352606.2:c.1893C>T | NP_001339535.1:p.Asp631= | |
| NM_001352607.2:c.1822-12111C>T | NP_001339536.1:n.1822-12111C>T | |
| NM_001352608.2:c.1815C>T | NP_001339537.1:p.Asp605= | |
| NM_001352610.2:c.1092C>T | NP_001339539.1:p.Asp364= | |
| NM_001352611.2:c.1038C>T | NP_001339540.1:p.Asp346= | |
| NM_001352612.2:c.948C>T | NP_001339541.1:p.Asp316= | |
| NR_148027.2:n.2012-12111C>T | ||
| NR_148028.2:n.2046C>T | ||
| NR_148029.2:n.1968C>T | ||
| NR_148030.2:n.2149C>T | ||
| NR_148031.2:n.1962C>T | ||
| NM_001127692.3:c.1959C>T | NP_001121164.1:p.Asp653= | |
| NM_001178004.2:c.1900-12111C>T | NP_001171475.1:n.1900-12111C>T |