Linked Data
ClinVar Variation Id:
218266
dbSNP Id:
rs771438170
ExAC:
13:101167783 G / A
gnomAD v2:
13-101167783-G-A
gnomAD v4:
13-100515529-G-A
PubMed:
PMID:27227689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100515529G>A , CM000675.2:g.100515529G>A | GRCh38 |
| NC_000013.10:g.101167783G>A , CM000675.1:g.101167783G>A | GRCh37 |
| NC_000013.9:g.99965784G>A | NCBI36 |
| NG_008768.1:g.431447G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.2002G>A MANE Select | ENSP00000365462.1:p.Gly668Arg | |
| ENST00000636366.1:c.1200G>A | ||
| ENST00000636475.1:c.1517G>A | ||
| ENST00000637657.1:c.1662G>A | ||
| ENST00000647303.1:c.*1486G>A | ENSP00000495663.1:n.*1486G>A | |
| ENST00000376279.7:c.1900-12146G>A | ENSP00000365456.3:n.1900-12146G>A | |
| ENST00000376285.5:c.2002G>A | ENSP00000365462.1:p.Gly668Arg | |
| ENST00000376286.8:c.1924G>A | ENSP00000365463.4:p.Gly642Arg | |
| ENST00000428969.1:c.103G>A | ENSP00000399413.1:p.Gly35Arg | |
| ENST00000458283.5:c.257-12146G>A | ||
| NM_000282.3:c.2002G>A | NP_000273.2:p.Gly668Arg | |
| NM_001127692.2:c.1924G>A | NP_001121164.1:p.Gly642Arg | |
| NM_001178004.1:c.1900-12146G>A | NP_001171475.1:n.1900-12146G>A | |
| XR_931615.1:n.1898-12146G>A | ||
| NM_001352605.1:c.1948G>A | NP_001339534.1:p.Gly650Arg | |
| NM_001352606.1:c.1858G>A | NP_001339535.1:p.Gly620Arg | |
| NM_001352607.1:c.1822-12146G>A | NP_001339536.1:n.1822-12146G>A | |
| NM_001352608.1:c.1780G>A | NP_001339537.1:p.Gly594Arg | |
| NM_001352610.1:c.1057G>A | NP_001339539.1:p.Gly353Arg | |
| NM_001352611.1:c.1003G>A | NP_001339540.1:p.Gly335Arg | |
| NM_001352612.1:c.913G>A | NP_001339541.1:p.Gly305Arg | |
| NR_148027.1:n.2090-12146G>A | ||
| NR_148028.1:n.2089G>A | ||
| NR_148029.1:n.2011G>A | ||
| NR_148030.1:n.2192G>A | ||
| NR_148031.1:n.2005G>A | ||
| XM_017020609.1:c.1903G>A | XP_016876098.1:p.Gly635Arg | |
| XM_017020612.1:c.*35G>A | XP_016876101.1:n.*35G>A | |
| XM_017020613.1:c.1979-12146G>A | XP_016876102.1:n.1979-12146G>A | |
| XR_001749567.1:n.2182G>A | ||
| XR_001749568.1:n.2269G>A | ||
| XR_001749569.1:n.2167-12146G>A | ||
| XR_001749574.1:n.2038G>A | ||
| XR_001749576.1:n.1739G>A | ||
| XR_001749577.1:n.1636G>A | ||
| NM_000282.4:c.2002G>A MANE Select | NP_000273.2:p.Gly668Arg | |
| NM_001352605.2:c.1948G>A | NP_001339534.1:p.Gly650Arg | |
| NM_001352606.2:c.1858G>A | NP_001339535.1:p.Gly620Arg | |
| NM_001352607.2:c.1822-12146G>A | NP_001339536.1:n.1822-12146G>A | |
| NM_001352608.2:c.1780G>A | NP_001339537.1:p.Gly594Arg | |
| NM_001352610.2:c.1057G>A | NP_001339539.1:p.Gly353Arg | |
| NM_001352611.2:c.1003G>A | NP_001339540.1:p.Gly335Arg | |
| NM_001352612.2:c.913G>A | NP_001339541.1:p.Gly305Arg | |
| NR_148027.2:n.2012-12146G>A | ||
| NR_148028.2:n.2011G>A | ||
| NR_148029.2:n.1933G>A | ||
| NR_148030.2:n.2114G>A | ||
| NR_148031.2:n.1927G>A | ||
| NM_001127692.3:c.1924G>A | NP_001121164.1:p.Gly642Arg | |
| NM_001178004.2:c.1900-12146G>A | NP_001171475.1:n.1900-12146G>A |