Linked Data
ClinVar Variation Id:
459938
ClinVar RCV Id:
RCV000534995
dbSNP Id:
rs1389933015
gnomAD v3:
13-100530089-A-G
gnomAD v4:
13-100530089-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100530089A>G , CM000675.2:g.100530089A>G | GRCh38 |
| NC_000013.10:g.101182343A>G , CM000675.1:g.101182343A>G | GRCh37 |
| NC_000013.9:g.99980344A>G | NCBI36 |
| NG_008768.1:g.446007A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.2119-9A>G MANE Select | ENSP00000365462.1:n.2119-9A>G | |
| ENST00000636366.1:c.1317-9A>G | ||
| ENST00000636475.1:c.1634-9A>G | ||
| ENST00000637657.1:c.1779-9A>G | ||
| ENST00000647303.1:c.*1603-9A>G | ENSP00000495663.1:n.*1603-9A>G | |
| ENST00000376279.7:c.1978-9A>G | ENSP00000365456.3:n.1978-9A>G | |
| ENST00000376285.5:c.2119-9A>G | ENSP00000365462.1:n.2119-9A>G | |
| ENST00000376286.8:c.2041-9A>G | ENSP00000365463.4:n.2041-9A>G | |
| ENST00000428969.1:c.268-9A>G | ENSP00000399413.1:n.268-9A>G | |
| ENST00000458283.5:c.335-9A>G | ||
| NM_000282.3:c.2119-9A>G | NP_000273.2:n.2119-9A>G | |
| NM_001127692.2:c.2041-9A>G | NP_001121164.1:n.2041-9A>G | |
| NM_001178004.1:c.1978-9A>G | NP_001171475.1:n.1978-9A>G | |
| XR_931615.1:n.1976-9A>G | ||
| NM_001352605.1:c.2065-9A>G | NP_001339534.1:n.2065-9A>G | |
| NM_001352606.1:c.1975-9A>G | NP_001339535.1:n.1975-9A>G | |
| NM_001352607.1:c.1900-9A>G | NP_001339536.1:n.1900-9A>G | |
| NM_001352608.1:c.1897-9A>G | NP_001339537.1:n.1897-9A>G | |
| NM_001352610.1:c.1174-9A>G | NP_001339539.1:n.1174-9A>G | |
| NM_001352611.1:c.1120-9A>G | NP_001339540.1:n.1120-9A>G | |
| NM_001352612.1:c.1030-9A>G | NP_001339541.1:n.1030-9A>G | |
| NR_148027.1:n.2168-9A>G | ||
| NR_148028.1:n.2206-9A>G | ||
| NR_148029.1:n.2128-9A>G | ||
| NR_148030.1:n.2309-9A>G | ||
| NR_148031.1:n.2122-9A>G | ||
| XM_017020609.1:c.2020-9A>G | XP_016876098.1:n.2020-9A>G | |
| XM_017020613.1:c.*47-9A>G | XP_016876102.1:n.*47-9A>G | |
| XR_001749567.1:n.2299-9A>G | ||
| XR_001749568.1:n.2386-9A>G | ||
| XR_001749569.1:n.2245-9A>G | ||
| XR_001749576.1:n.1856-9A>G | ||
| XR_001749577.1:n.1753-9A>G | ||
| NM_000282.4:c.2119-9A>G MANE Select | NP_000273.2:n.2119-9A>G | |
| NM_001352605.2:c.2065-9A>G | NP_001339534.1:n.2065-9A>G | |
| NM_001352606.2:c.1975-9A>G | NP_001339535.1:n.1975-9A>G | |
| NM_001352607.2:c.1900-9A>G | NP_001339536.1:n.1900-9A>G | |
| NM_001352608.2:c.1897-9A>G | NP_001339537.1:n.1897-9A>G | |
| NM_001352610.2:c.1174-9A>G | NP_001339539.1:n.1174-9A>G | |
| NM_001352611.2:c.1120-9A>G | NP_001339540.1:n.1120-9A>G | |
| NM_001352612.2:c.1030-9A>G | NP_001339541.1:n.1030-9A>G | |
| NR_148027.2:n.2090-9A>G | ||
| NR_148028.2:n.2128-9A>G | ||
| NR_148029.2:n.2050-9A>G | ||
| NR_148030.2:n.2231-9A>G | ||
| NR_148031.2:n.2044-9A>G | ||
| NM_001127692.3:c.2041-9A>G | NP_001121164.1:n.2041-9A>G | |
| NM_001178004.2:c.1978-9A>G | NP_001171475.1:n.1978-9A>G |