gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49528083C>G , CM000675.2:g.49528083C>G | GRCh38 |
| NC_000013.10:g.50102219C>G , CM000675.1:g.50102219C>G | GRCh37 |
| NC_000013.9:g.49000220C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378319.8:c.842-428C>G MANE Select | ENSP00000367570.3:n.842-428C>G | |
| ENST00000357596.7:c.725-428C>G | ENSP00000350209.3:n.725-428C>G | |
| ENST00000378319.7:c.842-428C>G | ENSP00000367570.3:n.842-428C>G | |
| ENST00000426879.5:c.706-428C>G | ||
| ENST00000465045.5:c.*209-428C>G | ENSP00000418630.1:n.*209-428C>G | |
| ENST00000486276.1:n.271-428C>G | ||
| ENST00000488958.5:c.725-428C>G | ENSP00000417539.1:n.725-428C>G | |
| ENST00000495157.5:n.616-428C>G | ||
| ENST00000621822.4:c.*150-428C>G | ENSP00000482432.1:n.*150-428C>G | |
| NM_001040443.1:c.842-428C>G | NP_001035533.1:n.842-428C>G | |
| NM_001040444.1:c.725-428C>G | NP_001035534.1:n.725-428C>G | |
| XM_005266417.2:c.356-428C>G | XP_005266474.1:n.356-428C>G | |
| XM_006719828.2:c.*822C>G | XP_006719891.1:n.*822C>G | |
| XM_006719829.1:c.725-428C>G | XP_006719892.1:n.725-428C>G | |
| XM_006719830.1:c.725-428C>G | XP_006719893.1:n.725-428C>G | |
| XM_011535102.1:c.725-428C>G | XP_011533404.1:n.725-428C>G | |
| XR_941597.1:n.1166-428C>G | ||
| NM_001040443.2:c.842-428C>G | NP_001035533.1:n.842-428C>G | |
| NM_001040444.2:c.725-428C>G | NP_001035534.1:n.725-428C>G | |
| NM_001320727.1:c.2324-428C>G | NP_001307656.1:n.2324-428C>G | |
| NR_135322.1:n.1112-428C>G | ||
| NR_135323.1:n.1211-428C>G | ||
| NR_135324.1:n.3434-428C>G | ||
| NM_001040443.3:c.842-428C>G MANE Select | NP_001035533.1:n.842-428C>G | |
| NM_001320727.2:c.2324-428C>G | NP_001307656.1:n.2324-428C>G | |
| NR_135322.2:n.769-428C>G | ||
| NR_135323.2:n.1161-428C>G | ||
| NR_135324.2:n.3453-428C>G |