Linked Data
ClinVar Variation Id:
218250
ClinVar RCV Id:
RCV000236764
dbSNP Id:
rs879253803
gnomAD v3:
13-100425632-G-C
gnomAD v4:
13-100425632-G-C
PubMed:
PMID:27227689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100425632G>C , CM000675.2:g.100425632G>C | GRCh38 |
| NC_000013.10:g.101077886G>C , CM000675.1:g.101077886G>C | GRCh37 |
| NC_000013.9:g.99875887G>C | NCBI36 |
| NG_008768.1:g.341550G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376285.6:c.1747-1G>C MANE Select | ENSP00000365462.1:n.1747-1G>C | |
| ENST00000636366.1:c.945-1G>C | ||
| ENST00000636475.1:c.1262-1G>C | ||
| ENST00000637657.1:c.1407-1G>C | ||
| ENST00000647303.1:c.*1231-1G>C | ENSP00000495663.1:n.*1231-1G>C | |
| ENST00000376279.7:c.1747-1G>C | ENSP00000365456.3:n.1747-1G>C | |
| ENST00000376285.5:c.1747-1G>C | ENSP00000365462.1:n.1747-1G>C | |
| ENST00000376286.8:c.1669-1G>C | ENSP00000365463.4:n.1669-1G>C | |
| ENST00000413170.1:c.77-1G>C | ||
| ENST00000424527.5:c.349-1G>C | ENSP00000396050.1:n.349-1G>C | |
| ENST00000458283.5:c.104-1G>C | ||
| NM_000282.3:c.1747-1G>C | NP_000273.2:n.1747-1G>C | |
| NM_001127692.2:c.1669-1G>C | NP_001121164.1:n.1669-1G>C | |
| NM_001178004.1:c.1747-1G>C | NP_001171475.1:n.1747-1G>C | |
| XM_005254059.2:c.1747-1G>C | XP_005254116.1:n.1747-1G>C | |
| XM_011521093.1:c.1747-1G>C | XP_011519395.1:n.1747-1G>C | |
| XR_931615.1:n.1745-1G>C | ||
| NM_001352605.1:c.1747-1G>C | NP_001339534.1:n.1747-1G>C | |
| NM_001352606.1:c.1603-1G>C | NP_001339535.1:n.1603-1G>C | |
| NM_001352607.1:c.1669-1G>C | NP_001339536.1:n.1669-1G>C | |
| NM_001352608.1:c.1525-1G>C | NP_001339537.1:n.1525-1G>C | |
| NM_001352609.1:c.1747-1G>C | NP_001339538.1:n.1747-1G>C | |
| NM_001352610.1:c.802-1G>C | NP_001339539.1:n.802-1G>C | |
| NM_001352611.1:c.802-1G>C | NP_001339540.1:n.802-1G>C | |
| NM_001352612.1:c.658-1G>C | NP_001339541.1:n.658-1G>C | |
| NR_148027.1:n.1937-1G>C | ||
| NR_148028.1:n.1834-1G>C | ||
| NR_148029.1:n.1756-1G>C | ||
| NR_148030.1:n.1937-1G>C | ||
| NR_148031.1:n.1750-1G>C | ||
| XM_017020605.1:c.1747-1G>C | XP_016876094.1:n.1747-1G>C | |
| XM_017020606.1:c.1669-1G>C | XP_016876095.1:n.1669-1G>C | |
| XM_017020607.1:c.1648-1G>C | XP_016876096.1:n.1648-1G>C | |
| XM_017020609.1:c.1648-1G>C | XP_016876098.1:n.1648-1G>C | |
| XM_017020611.1:c.1747-1G>C | XP_016876100.1:n.1747-1G>C | |
| XM_017020612.1:c.1747-1G>C | XP_016876101.1:n.1747-1G>C | |
| XM_017020613.1:c.1747-1G>C | XP_016876102.1:n.1747-1G>C | |
| XR_001749567.1:n.1848-1G>C | ||
| XR_001749568.1:n.2014-1G>C | ||
| XR_001749569.1:n.2014-1G>C | ||
| XR_001749574.1:n.1783-1G>C | ||
| XR_001749576.1:n.1484-1G>C | ||
| XR_001749577.1:n.1381-1G>C | ||
| NM_000282.4:c.1747-1G>C MANE Select | NP_000273.2:n.1747-1G>C | |
| NM_001352605.2:c.1747-1G>C | NP_001339534.1:n.1747-1G>C | |
| NM_001352606.2:c.1603-1G>C | NP_001339535.1:n.1603-1G>C | |
| NM_001352607.2:c.1669-1G>C | NP_001339536.1:n.1669-1G>C | |
| NM_001352608.2:c.1525-1G>C | NP_001339537.1:n.1525-1G>C | |
| NM_001352609.2:c.1747-1G>C | NP_001339538.1:n.1747-1G>C | |
| NM_001352610.2:c.802-1G>C | NP_001339539.1:n.802-1G>C | |
| NM_001352611.2:c.802-1G>C | NP_001339540.1:n.802-1G>C | |
| NM_001352612.2:c.658-1G>C | NP_001339541.1:n.658-1G>C | |
| NR_148027.2:n.1859-1G>C | ||
| NR_148028.2:n.1756-1G>C | ||
| NR_148029.2:n.1678-1G>C | ||
| NR_148030.2:n.1859-1G>C | ||
| NR_148031.2:n.1672-1G>C | ||
| NM_001127692.3:c.1669-1G>C | NP_001121164.1:n.1669-1G>C | |
| NM_001178004.2:c.1747-1G>C | NP_001171475.1:n.1747-1G>C |