Linked Data
ClinVar Variation Id:
2188358
ClinVar RCV Id:
RCV002620168
dbSNP Id:
rs1179084266
gnomAD v3:
22-17181817-C-T
gnomAD v4:
22-17181817-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17181817C>T , CM000684.2:g.17181817C>T | GRCh38 |
| NC_000022.10:g.17662707C>T , CM000684.1:g.17662707C>T | GRCh37 |
| NC_000022.9:g.16042707C>T | NCBI36 |
| NG_033943.1:g.45038G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330232.9:c.719+3G>A | ENSP00000332871.4:n.719+3G>A | |
| ENST00000449907.8:c.1316+3G>A | ENSP00000406443.2:n.1316+3G>A | |
| ENST00000469063.2:n.1330+3G>A | ||
| ENST00000543038.2:c.1442+3G>A | ENSP00000442482.2:n.1442+3G>A | |
| ENST00000610390.5:c.1082+3G>A | ENSP00000483418.1:n.1082+3G>A | |
| ENST00000648061.2:c.*418+3G>A | ENSP00000496894.1:n.*418+3G>A | |
| ENST00000649310.2:c.1442+3G>A | ENSP00000496839.2:n.1442+3G>A | |
| ENST00000649746.2:c.1442+3G>A | ENSP00000497913.2:n.1442+3G>A | |
| ENST00000649915.2:c.*2564+3G>A | ENSP00000497681.2:n.*2564+3G>A | |
| ENST00000696196.1:c.1442+3G>A | ENSP00000512479.1:n.1442+3G>A | |
| ENST00000696197.1:c.1442+3G>A | ENSP00000512480.1:n.1442+3G>A | |
| ENST00000696218.1:n.554+3G>A | ||
| ENST00000696220.1:c.668+3G>A | ENSP00000512486.1:n.668+3G>A | |
| ENST00000696221.1:c.689+3G>A | ENSP00000512487.1:n.689+3G>A | |
| ENST00000696222.1:c.689+3G>A | ENSP00000512488.1:n.689+3G>A | |
| ENST00000696223.1:c.689+3G>A | ENSP00000512489.1:n.689+3G>A | |
| ENST00000696224.1:c.836+3G>A | ENSP00000512490.1:n.836+3G>A | |
| ENST00000696225.1:c.1442+3G>A | ENSP00000512491.1:n.1442+3G>A | |
| ENST00000399837.8:c.1442+3G>A MANE Select | ENSP00000382731.2:n.1442+3G>A | |
| ENST00000449907.7:c.1316+3G>A | ENSP00000406443.2:n.1316+3G>A | |
| ENST00000648061.1:c.*418+3G>A | ENSP00000496894.1:n.*418+3G>A | |
| ENST00000648668.1:n.880+3G>A | ||
| ENST00000649540.1:c.1316+3G>A | ENSP00000497469.1:n.1316+3G>A | |
| ENST00000649915.1:c.2955+3G>A | ||
| ENST00000262607.3:c.1442+3G>A | ENSP00000262607.2:n.1442+3G>A | |
| ENST00000330232.8:c.719+3G>A | ENSP00000332871.4:n.719+3G>A | |
| ENST00000399837.6:c.1442+3G>A | ENSP00000382731.2:n.1442+3G>A | |
| ENST00000399839.5:c.1442+3G>A | ENSP00000382733.1:n.1442+3G>A | |
| ENST00000449907.6:c.1316+3G>A | ENSP00000406443.2:n.1316+3G>A | |
| ENST00000610390.4:c.1082+3G>A | ENSP00000483418.1:n.1082+3G>A | |
| NM_001282225.1:c.1442+3G>A | NP_001269154.1:n.1442+3G>A | |
| NM_001282226.1:c.1442+3G>A | NP_001269155.1:n.1442+3G>A | |
| NM_001282227.1:c.1316+3G>A | NP_001269156.1:n.1316+3G>A | |
| NM_001282228.1:c.1316+3G>A | NP_001269157.1:n.1316+3G>A | |
| NM_001282229.1:c.1082+3G>A | NP_001269158.1:n.1082+3G>A | |
| NM_177405.2:c.719+3G>A | NP_803124.1:n.719+3G>A | |
| XM_006724080.2:c.758+3G>A | XP_006724143.1:n.758+3G>A | |
| XM_011546133.1:c.1442+3G>A | XP_011544435.1:n.1442+3G>A | |
| NM_001282225.2:c.1442+3G>A MANE Select | NP_001269154.1:n.1442+3G>A | |
| XM_006724080.3:c.758+3G>A | XP_006724143.1:n.758+3G>A | |
| XM_011546133.2:c.1442+3G>A | XP_011544435.1:n.1442+3G>A | |
| NM_001282226.2:c.1442+3G>A | NP_001269155.1:n.1442+3G>A | |
| NM_001282227.2:c.1316+3G>A | NP_001269156.1:n.1316+3G>A | |
| NM_001282228.2:c.1316+3G>A | NP_001269157.1:n.1316+3G>A | |
| NM_177405.3:c.719+3G>A | NP_803124.1:n.719+3G>A | |
| NM_001282229.2:c.1082+3G>A | NP_001269158.1:n.1082+3G>A |