Linked Data
ClinVar Variation Id:
2742753
ClinVar RCV Id:
RCV003558090
dbSNP Id:
rs2087501886
gnomAD v4:
18-49163788-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49163788C>A , CM000680.2:g.49163788C>A | GRCh38 |
| NC_000018.9:g.46690158C>A , CM000680.1:g.46690158C>A | GRCh37 |
| NC_000018.8:g.44944156C>A | NCBI36 |
| NG_009239.1:g.301922G>T | |
| NG_009239.2:g.301946G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.1626-1G>T MANE Select | ENSP00000501694.1:n.1626-1G>T | |
| ENST00000269445.10:c.1461-1G>T | ENSP00000269445.6:n.1461-1G>T | |
| ENST00000442713.6:c.891-1G>T | ENSP00000395942.2:n.891-1G>T | |
| ENST00000582399.1:c.290-1G>T | ||
| NM_017653.3:c.1461-1G>T | NP_060123.3:n.1461-1G>T | |
| XM_006722488.2:c.1461-1G>T | XP_006722551.1:n.1461-1G>T | |
| XM_006722490.2:c.1461-1G>T | XP_006722553.1:n.1461-1G>T | |
| XM_011526036.1:c.1461-1G>T | XP_011524338.1:n.1461-1G>T | |
| XM_011526037.1:c.1458-1G>T | XP_011524339.1:n.1458-1G>T | |
| XM_011526038.1:c.1458-1G>T | XP_011524340.1:n.1458-1G>T | |
| XM_011526039.1:c.1461-1G>T | XP_011524341.1:n.1461-1G>T | |
| XM_011526040.1:c.1293-1G>T | XP_011524342.1:n.1293-1G>T | |
| XM_011526041.1:c.1461-1G>T | XP_011524343.1:n.1461-1G>T | |
| XM_011526042.1:c.1461-1G>T | XP_011524344.1:n.1461-1G>T | |
| XM_011526043.1:c.1461-1G>T | XP_011524345.1:n.1461-1G>T | |
| NM_001353210.1:c.1458-1G>T | NP_001340139.1:n.1458-1G>T | |
| NM_001353211.1:c.1458-1G>T | NP_001340140.1:n.1458-1G>T | |
| NM_001353212.1:c.1623-1G>T | NP_001340141.1:n.1623-1G>T | |
| NM_001353213.1:c.1623-1G>T | NP_001340142.1:n.1623-1G>T | |
| NM_001353214.1:c.1626-1G>T | NP_001340143.1:n.1626-1G>T | |
| NM_001353215.1:c.1626-1G>T | NP_001340144.1:n.1626-1G>T | |
| NM_001353216.1:c.1461-1G>T | NP_001340145.1:n.1461-1G>T | |
| NM_017653.4:c.1461-1G>T | NP_060123.3:n.1461-1G>T | |
| XM_006722488.3:c.1461-1G>T | XP_006722551.1:n.1461-1G>T | |
| XM_011526036.2:c.1461-1G>T | XP_011524338.1:n.1461-1G>T | |
| XM_011526038.2:c.1458-1G>T | XP_011524340.1:n.1458-1G>T | |
| XM_011526039.2:c.1461-1G>T | XP_011524341.1:n.1461-1G>T | |
| XM_011526041.2:c.1461-1G>T | XP_011524343.1:n.1461-1G>T | |
| XM_011526042.2:c.1461-1G>T | XP_011524344.1:n.1461-1G>T | |
| XM_017025795.1:c.1455-1G>T | XP_016881284.1:n.1455-1G>T | |
| XM_017025796.2:c.1281-1G>T | XP_016881285.1:n.1281-1G>T | |
| XM_017025800.2:c.1458-1G>T | XP_016881289.1:n.1458-1G>T | |
| XM_017025801.1:c.1455-1G>T | XP_016881290.1:n.1455-1G>T | |
| XR_002958177.1:n.1818-1G>T | ||
| NM_001353210.3:c.1458-1G>T | NP_001340139.1:n.1458-1G>T | |
| NM_001353211.3:c.1458-1G>T | NP_001340140.1:n.1458-1G>T | |
| NM_001353212.3:c.1623-1G>T | NP_001340141.1:n.1623-1G>T | |
| NM_001353213.3:c.1623-1G>T | NP_001340142.1:n.1623-1G>T | |
| NM_001353214.3:c.1626-1G>T MANE Select | NP_001340143.1:n.1626-1G>T | |
| NM_001353215.3:c.1626-1G>T | NP_001340144.1:n.1626-1G>T | |
| NM_001353216.3:c.1461-1G>T | NP_001340145.1:n.1461-1G>T | |
| NM_001374428.1:c.1626-1G>T | NP_001361357.1:n.1626-1G>T | |
| NM_001374429.1:c.1620-1G>T | NP_001361358.1:n.1620-1G>T | |
| NM_001374430.1:c.1626-1G>T | NP_001361359.1:n.1626-1G>T | |
| NM_001374431.1:c.1626-1G>T | NP_001361360.1:n.1626-1G>T | |
| NM_001374432.1:c.1500-1G>T | NP_001361361.1:n.1500-1G>T | |
| NM_001374433.1:c.1461-1G>T | NP_001361362.1:n.1461-1G>T | |
| NM_001374434.1:c.1461-1G>T | NP_001361363.1:n.1461-1G>T | |
| NM_001374435.1:c.1458-1G>T | NP_001361364.1:n.1458-1G>T | |
| NM_001374436.1:c.1335-1G>T | NP_001361365.1:n.1335-1G>T | |
| NM_001374437.1:c.1278-1G>T | NP_001361366.1:n.1278-1G>T | |
| NM_001374438.1:c.1458-1G>T | NP_001361367.1:n.1458-1G>T | |
| NM_001374439.1:c.1455-1G>T | NP_001361368.1:n.1455-1G>T | |
| NM_001374440.1:c.1233-1G>T | NP_001361369.1:n.1233-1G>T | |
| NM_001374441.1:c.1056-1G>T | NP_001361370.1:n.1056-1G>T | |
| NM_001374442.1:c.891-1G>T | NP_001361371.1:n.891-1G>T | |
| NM_001374443.1:c.888-1G>T | NP_001361372.1:n.888-1G>T | |
| NM_001374444.1:c.891-1G>T | NP_001361373.1:n.891-1G>T | |
| NM_017653.6:c.1461-1G>T | NP_060123.3:n.1461-1G>T |