Linked Data
ClinVar Variation Id:
218256
ClinVar RCV Id:
RCV000236921
dbSNP Id:
rs369982920
ExAC:
13:101167821 G / A
gnomAD v2:
13-101167821-G-A
gnomAD v3:
13-100515567-G-A
gnomAD v4:
13-100515567-G-A
PubMed:
PMID:27227689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100515567G>A , CM000675.2:g.100515567G>A | GRCh38 |
| NC_000013.10:g.101167821G>A , CM000675.1:g.101167821G>A | GRCh37 |
| NC_000013.9:g.99965822G>A | NCBI36 |
| NG_008768.1:g.431485G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.2040G>A MANE Select | ENSP00000365462.1:p.Ala680= | |
| ENST00000636366.1:c.1238G>A | ||
| ENST00000636475.1:c.1555G>A | ||
| ENST00000637657.1:c.1700G>A | ||
| ENST00000647303.1:c.*1524G>A | ENSP00000495663.1:n.*1524G>A | |
| ENST00000376279.7:c.1900-12108G>A | ENSP00000365456.3:n.1900-12108G>A | |
| ENST00000376285.5:c.2040G>A | ENSP00000365462.1:p.Ala680= | |
| ENST00000376286.8:c.1962G>A | ENSP00000365463.4:p.Ala654= | |
| ENST00000428969.1:c.141G>A | ENSP00000399413.1:p.Ala47= | |
| ENST00000458283.5:c.257-12108G>A | ||
| NM_000282.3:c.2040G>A | NP_000273.2:p.Ala680= | |
| NM_001127692.2:c.1962G>A | NP_001121164.1:p.Ala654= | |
| NM_001178004.1:c.1900-12108G>A | NP_001171475.1:n.1900-12108G>A | |
| XR_931615.1:n.1898-12108G>A | ||
| NM_001352605.1:c.1986G>A | NP_001339534.1:p.Ala662= | |
| NM_001352606.1:c.1896G>A | NP_001339535.1:p.Ala632= | |
| NM_001352607.1:c.1822-12108G>A | NP_001339536.1:n.1822-12108G>A | |
| NM_001352608.1:c.1818G>A | NP_001339537.1:p.Ala606= | |
| NM_001352610.1:c.1095G>A | NP_001339539.1:p.Ala365= | |
| NM_001352611.1:c.1041G>A | NP_001339540.1:p.Ala347= | |
| NM_001352612.1:c.951G>A | NP_001339541.1:p.Ala317= | |
| NR_148027.1:n.2090-12108G>A | ||
| NR_148028.1:n.2127G>A | ||
| NR_148029.1:n.2049G>A | ||
| NR_148030.1:n.2230G>A | ||
| NR_148031.1:n.2043G>A | ||
| XM_017020609.1:c.1941G>A | XP_016876098.1:p.Ala647= | |
| XM_017020612.1:c.*73G>A | XP_016876101.1:n.*73G>A | |
| XM_017020613.1:c.1979-12108G>A | XP_016876102.1:n.1979-12108G>A | |
| XR_001749567.1:n.2220G>A | ||
| XR_001749568.1:n.2307G>A | ||
| XR_001749569.1:n.2167-12108G>A | ||
| XR_001749574.1:n.2076G>A | ||
| XR_001749576.1:n.1777G>A | ||
| XR_001749577.1:n.1674G>A | ||
| NM_000282.4:c.2040G>A MANE Select | NP_000273.2:p.Ala680= | |
| NM_001352605.2:c.1986G>A | NP_001339534.1:p.Ala662= | |
| NM_001352606.2:c.1896G>A | NP_001339535.1:p.Ala632= | |
| NM_001352607.2:c.1822-12108G>A | NP_001339536.1:n.1822-12108G>A | |
| NM_001352608.2:c.1818G>A | NP_001339537.1:p.Ala606= | |
| NM_001352610.2:c.1095G>A | NP_001339539.1:p.Ala365= | |
| NM_001352611.2:c.1041G>A | NP_001339540.1:p.Ala347= | |
| NM_001352612.2:c.951G>A | NP_001339541.1:p.Ala317= | |
| NR_148027.2:n.2012-12108G>A | ||
| NR_148028.2:n.2049G>A | ||
| NR_148029.2:n.1971G>A | ||
| NR_148030.2:n.2152G>A | ||
| NR_148031.2:n.1965G>A | ||
| NM_001127692.3:c.1962G>A | NP_001121164.1:p.Ala654= | |
| NM_001178004.2:c.1900-12108G>A | NP_001171475.1:n.1900-12108G>A |