Linked Data
ClinVar Variation Id:
310849
ClinVar RCV Id:
RCV000272420
dbSNP Id:
rs376383373
ExAC:
13:101167820 C / T
gnomAD v2:
13-101167820-C-T
gnomAD v3:
13-100515566-C-T
gnomAD v4:
13-100515566-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100515566C>T , CM000675.2:g.100515566C>T | GRCh38 |
| NC_000013.10:g.101167820C>T , CM000675.1:g.101167820C>T | GRCh37 |
| NC_000013.9:g.99965821C>T | NCBI36 |
| NG_008768.1:g.431484C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376285.6:c.2039C>T MANE Select | ENSP00000365462.1:p.Ala680Val | |
| ENST00000636366.1:c.1237C>T | ||
| ENST00000636475.1:c.1554C>T | ||
| ENST00000637657.1:c.1699C>T | ||
| ENST00000647303.1:c.*1523C>T | ENSP00000495663.1:n.*1523C>T | |
| ENST00000376279.7:c.1900-12109C>T | ENSP00000365456.3:n.1900-12109C>T | |
| ENST00000376285.5:c.2039C>T | ENSP00000365462.1:p.Ala680Val | |
| ENST00000376286.8:c.1961C>T | ENSP00000365463.4:p.Ala654Val | |
| ENST00000428969.1:c.140C>T | ENSP00000399413.1:p.Ala47Val | |
| ENST00000458283.5:c.257-12109C>T | ||
| NM_000282.3:c.2039C>T | NP_000273.2:p.Ala680Val | |
| NM_001127692.2:c.1961C>T | NP_001121164.1:p.Ala654Val | |
| NM_001178004.1:c.1900-12109C>T | NP_001171475.1:n.1900-12109C>T | |
| XR_931615.1:n.1898-12109C>T | ||
| NM_001352605.1:c.1985C>T | NP_001339534.1:p.Ala662Val | |
| NM_001352606.1:c.1895C>T | NP_001339535.1:p.Ala632Val | |
| NM_001352607.1:c.1822-12109C>T | NP_001339536.1:n.1822-12109C>T | |
| NM_001352608.1:c.1817C>T | NP_001339537.1:p.Ala606Val | |
| NM_001352610.1:c.1094C>T | NP_001339539.1:p.Ala365Val | |
| NM_001352611.1:c.1040C>T | NP_001339540.1:p.Ala347Val | |
| NM_001352612.1:c.950C>T | NP_001339541.1:p.Ala317Val | |
| NR_148027.1:n.2090-12109C>T | ||
| NR_148028.1:n.2126C>T | ||
| NR_148029.1:n.2048C>T | ||
| NR_148030.1:n.2229C>T | ||
| NR_148031.1:n.2042C>T | ||
| XM_017020609.1:c.1940C>T | XP_016876098.1:p.Ala647Val | |
| XM_017020612.1:c.*72C>T | XP_016876101.1:n.*72C>T | |
| XM_017020613.1:c.1979-12109C>T | XP_016876102.1:n.1979-12109C>T | |
| XR_001749567.1:n.2219C>T | ||
| XR_001749568.1:n.2306C>T | ||
| XR_001749569.1:n.2167-12109C>T | ||
| XR_001749574.1:n.2075C>T | ||
| XR_001749576.1:n.1776C>T | ||
| XR_001749577.1:n.1673C>T | ||
| NM_000282.4:c.2039C>T MANE Select | NP_000273.2:p.Ala680Val | |
| NM_001352605.2:c.1985C>T | NP_001339534.1:p.Ala662Val | |
| NM_001352606.2:c.1895C>T | NP_001339535.1:p.Ala632Val | |
| NM_001352607.2:c.1822-12109C>T | NP_001339536.1:n.1822-12109C>T | |
| NM_001352608.2:c.1817C>T | NP_001339537.1:p.Ala606Val | |
| NM_001352610.2:c.1094C>T | NP_001339539.1:p.Ala365Val | |
| NM_001352611.2:c.1040C>T | NP_001339540.1:p.Ala347Val | |
| NM_001352612.2:c.950C>T | NP_001339541.1:p.Ala317Val | |
| NR_148027.2:n.2012-12109C>T | ||
| NR_148028.2:n.2048C>T | ||
| NR_148029.2:n.1970C>T | ||
| NR_148030.2:n.2151C>T | ||
| NR_148031.2:n.1964C>T | ||
| NM_001127692.3:c.1961C>T | NP_001121164.1:p.Ala654Val | |
| NM_001178004.2:c.1900-12109C>T | NP_001171475.1:n.1900-12109C>T |