Linked Data
ClinVar Variation Id:
218249
ClinVar RCV Id:
RCV000235932
dbSNP Id:
rs879253802
PubMed:
PMID:27227689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100209464G>T , CM000675.2:g.100209464G>T | GRCh38 |
| NC_000013.10:g.100861718G>T , CM000675.1:g.100861718G>T | GRCh37 |
| NC_000013.9:g.99659719G>T | NCBI36 |
| NG_008768.1:g.125382G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.600+1G>T MANE Select | ENSP00000365462.1:n.600+1G>T | |
| ENST00000636366.1:c.479+1G>T | ||
| ENST00000636420.1:c.479+1G>T | ||
| ENST00000636475.1:c.479+1G>T | ||
| ENST00000637358.1:c.479+1G>T | ||
| ENST00000637657.1:c.479+1G>T | ||
| ENST00000647303.1:c.*448+1G>T | ENSP00000495663.1:n.*448+1G>T | |
| ENST00000376279.7:c.600+1G>T | ENSP00000365456.3:n.600+1G>T | |
| ENST00000376285.5:c.600+1G>T | ENSP00000365462.1:n.600+1G>T | |
| ENST00000376286.8:c.522+1G>T | ENSP00000365463.4:n.522+1G>T | |
| NM_000282.3:c.600+1G>T | NP_000273.2:n.600+1G>T | |
| NM_001127692.2:c.522+1G>T | NP_001121164.1:n.522+1G>T | |
| NM_001178004.1:c.600+1G>T | NP_001171475.1:n.600+1G>T | |
| XM_005254059.2:c.600+1G>T | XP_005254116.1:n.600+1G>T | |
| XM_011521093.1:c.600+1G>T | XP_011519395.1:n.600+1G>T | |
| XR_931615.1:n.701+1G>T | ||
| XR_931616.1:n.701+1G>T | ||
| NM_001352605.1:c.600+1G>T | NP_001339534.1:n.600+1G>T | |
| NM_001352606.1:c.600+1G>T | NP_001339535.1:n.600+1G>T | |
| NM_001352607.1:c.522+1G>T | NP_001339536.1:n.522+1G>T | |
| NM_001352608.1:c.522+1G>T | NP_001339537.1:n.522+1G>T | |
| NM_001352609.1:c.600+1G>T | NP_001339538.1:n.600+1G>T | |
| NM_001352610.1:c.-267+1G>T | NP_001339539.1:n.-267+1G>T | |
| NM_001352611.1:c.-267+1G>T | NP_001339540.1:n.-267+1G>T | |
| NM_001352612.1:c.-267+1G>T | NP_001339541.1:n.-267+1G>T | |
| NR_148027.1:n.706+1G>T | ||
| NR_148028.1:n.706+1G>T | ||
| NR_148029.1:n.628+1G>T | ||
| NR_148030.1:n.706+1G>T | ||
| NR_148031.1:n.706+1G>T | ||
| XM_017020605.1:c.600+1G>T | XP_016876094.1:n.600+1G>T | |
| XM_017020606.1:c.522+1G>T | XP_016876095.1:n.522+1G>T | |
| XM_017020607.1:c.501+1G>T | XP_016876096.1:n.501+1G>T | |
| XM_017020609.1:c.501+1G>T | XP_016876098.1:n.501+1G>T | |
| XM_017020611.1:c.600+1G>T | XP_016876100.1:n.600+1G>T | |
| XM_017020612.1:c.600+1G>T | XP_016876101.1:n.600+1G>T | |
| XM_017020613.1:c.600+1G>T | XP_016876102.1:n.600+1G>T | |
| XM_017020615.1:c.600+1G>T | XP_016876104.1:n.600+1G>T | |
| XM_017020616.1:c.600+1G>T | XP_016876105.1:n.600+1G>T | |
| XR_001749567.1:n.701+1G>T | ||
| XR_001749568.1:n.701+1G>T | ||
| XR_001749569.1:n.701+1G>T | ||
| XR_001749574.1:n.552+1G>T | ||
| XR_001749576.1:n.701+1G>T | ||
| XR_001749577.1:n.701+1G>T | ||
| NM_000282.4:c.600+1G>T MANE Select | NP_000273.2:n.600+1G>T | |
| NM_001352605.2:c.600+1G>T | NP_001339534.1:n.600+1G>T | |
| NM_001352606.2:c.600+1G>T | NP_001339535.1:n.600+1G>T | |
| NM_001352607.2:c.522+1G>T | NP_001339536.1:n.522+1G>T | |
| NM_001352608.2:c.522+1G>T | NP_001339537.1:n.522+1G>T | |
| NM_001352609.2:c.600+1G>T | NP_001339538.1:n.600+1G>T | |
| NM_001352610.2:c.-267+1G>T | NP_001339539.1:n.-267+1G>T | |
| NM_001352611.2:c.-267+1G>T | NP_001339540.1:n.-267+1G>T | |
| NM_001352612.2:c.-267+1G>T | NP_001339541.1:n.-267+1G>T | |
| NR_148027.2:n.628+1G>T | ||
| NR_148028.2:n.628+1G>T | ||
| NR_148029.2:n.550+1G>T | ||
| NR_148030.2:n.628+1G>T | ||
| NR_148031.2:n.628+1G>T | ||
| NM_001127692.3:c.522+1G>T | NP_001121164.1:n.522+1G>T | |
| NM_001178004.2:c.600+1G>T | NP_001171475.1:n.600+1G>T |