Linked Data
ClinVar Variation Id:
38865
dbSNP Id:
rs61749895
ExAC:
13:101020733 G / T
gnomAD v2:
13-101020733-G-T
gnomAD v3:
13-100368479-G-T
gnomAD v4:
13-100368479-G-T
PubMed:
PMID:22593918
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100368479G>T , CM000675.2:g.100368479G>T | GRCh38 |
| NC_000013.10:g.101020733G>T , CM000675.1:g.101020733G>T | GRCh37 |
| NC_000013.9:g.99818734G>T | NCBI36 |
| NG_008768.1:g.284397G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.1651G>T MANE Select | ENSP00000365462.1:p.Val551Phe | |
| ENST00000636366.1:c.945-57154G>T | ||
| ENST00000636475.1:c.1166G>T | ||
| ENST00000637657.1:c.1311G>T | ||
| ENST00000647303.1:c.*1135G>T | ENSP00000495663.1:n.*1135G>T | |
| ENST00000376279.7:c.1651G>T | ENSP00000365456.3:p.Val551Phe | |
| ENST00000376285.5:c.1651G>T | ENSP00000365462.1:p.Val551Phe | |
| ENST00000376286.8:c.1573G>T | ENSP00000365463.4:p.Val525Phe | |
| ENST00000424527.5:c.253G>T | ENSP00000396050.1:p.Val85Phe | |
| ENST00000458283.5:c.8G>T | ||
| NM_000282.3:c.1651G>T | NP_000273.2:p.Val551Phe | |
| NM_001127692.2:c.1573G>T | NP_001121164.1:p.Val525Phe | |
| NM_001178004.1:c.1651G>T | NP_001171475.1:p.Val551Phe | |
| XM_005254059.2:c.1651G>T | XP_005254116.1:p.Val551Phe | |
| XM_011521093.1:c.1651G>T | XP_011519395.1:p.Val551Phe | |
| XR_931615.1:n.1744+28220G>T | ||
| NM_001352605.1:c.1651G>T | NP_001339534.1:p.Val551Phe | |
| NM_001352606.1:c.1507G>T | NP_001339535.1:p.Val503Phe | |
| NM_001352607.1:c.1573G>T | NP_001339536.1:p.Val525Phe | |
| NM_001352608.1:c.1429G>T | NP_001339537.1:p.Val477Phe | |
| NM_001352609.1:c.1651G>T | NP_001339538.1:p.Val551Phe | |
| NM_001352610.1:c.706G>T | NP_001339539.1:p.Val236Phe | |
| NM_001352611.1:c.706G>T | NP_001339540.1:p.Val236Phe | |
| NM_001352612.1:c.562G>T | NP_001339541.1:p.Val188Phe | |
| NR_148027.1:n.1841G>T | ||
| NR_148028.1:n.1833+28220G>T | ||
| NR_148029.1:n.1755+28220G>T | ||
| NR_148030.1:n.1841G>T | ||
| NR_148031.1:n.1749+28220G>T | ||
| XM_017020605.1:c.1651G>T | XP_016876094.1:p.Val551Phe | |
| XM_017020606.1:c.1573G>T | XP_016876095.1:p.Val525Phe | |
| XM_017020607.1:c.1552G>T | XP_016876096.1:p.Val518Phe | |
| XM_017020609.1:c.1552G>T | XP_016876098.1:p.Val518Phe | |
| XM_017020611.1:c.1651G>T | XP_016876100.1:p.Val551Phe | |
| XM_017020612.1:c.1651G>T | XP_016876101.1:p.Val551Phe | |
| XM_017020613.1:c.1651G>T | XP_016876102.1:p.Val551Phe | |
| XM_017020615.1:c.1651G>T | XP_016876104.1:p.Val551Phe | |
| XR_001749567.1:n.1752G>T | ||
| XR_001749568.1:n.1752G>T | ||
| XR_001749569.1:n.1752G>T | ||
| XR_001749574.1:n.1687G>T | ||
| XR_001749576.1:n.1388G>T | ||
| XR_001749577.1:n.1380+28220G>T | ||
| NM_000282.4:c.1651G>T MANE Select | NP_000273.2:p.Val551Phe | |
| NM_001352605.2:c.1651G>T | NP_001339534.1:p.Val551Phe | |
| NM_001352606.2:c.1507G>T | NP_001339535.1:p.Val503Phe | |
| NM_001352607.2:c.1573G>T | NP_001339536.1:p.Val525Phe | |
| NM_001352608.2:c.1429G>T | NP_001339537.1:p.Val477Phe | |
| NM_001352609.2:c.1651G>T | NP_001339538.1:p.Val551Phe | |
| NM_001352610.2:c.706G>T | NP_001339539.1:p.Val236Phe | |
| NM_001352611.2:c.706G>T | NP_001339540.1:p.Val236Phe | |
| NM_001352612.2:c.562G>T | NP_001339541.1:p.Val188Phe | |
| NR_148027.2:n.1763G>T | ||
| NR_148028.2:n.1755+28220G>T | ||
| NR_148029.2:n.1677+28220G>T | ||
| NR_148030.2:n.1763G>T | ||
| NR_148031.2:n.1671+28220G>T | ||
| NM_001127692.3:c.1573G>T | NP_001121164.1:p.Val525Phe | |
| NM_001178004.2:c.1651G>T | NP_001171475.1:p.Val551Phe |