Linked Data
ClinVar Variation Id:
762747
ClinVar RCV Id:
RCV001467632
dbSNP Id:
rs771175893
ExAC:
11:118971122 C / G
gnomAD v2:
11-118971122-C-G
gnomAD v3:
11-119100412-C-G
gnomAD v4:
11-119100412-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119100412C>G , CM000673.2:g.119100412C>G | GRCh38 |
| NC_000011.9:g.118971122C>G , CM000673.1:g.118971122C>G | GRCh37 |
| NC_000011.8:g.118476332C>G | NCBI36 |
| NG_008918.1:g.6664G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.673-4G>C | ||
| ENST00000530052.2:n.1239-4G>C | ||
| ENST00000682191.1:n.699-4G>C | ||
| ENST00000682192.1:n.699-4G>C | ||
| ENST00000682232.1:c.*202-4G>C | ENSP00000507302.1:n.*202-4G>C | |
| ENST00000682326.1:c.497-4G>C | ENSP00000508129.1:n.497-4G>C | |
| ENST00000682404.1:n.1239-4G>C | ||
| ENST00000682517.1:n.1239-4G>C | ||
| ENST00000682652.1:n.1468-4G>C | ||
| ENST00000682665.1:n.894-4G>C | ||
| ENST00000682691.1:n.894-4G>C | ||
| ENST00000682791.1:c.410-4G>C | ENSP00000507312.1:n.410-4G>C | |
| ENST00000682811.1:c.497-4G>C | ENSP00000508196.1:n.497-4G>C | |
| ENST00000682883.1:n.800-4G>C | ||
| ENST00000682946.1:c.497-4G>C | ENSP00000506856.1:n.497-4G>C | |
| ENST00000683143.1:c.*202-4G>C | ENSP00000507168.1:n.*202-4G>C | |
| ENST00000683373.1:n.699-4G>C | ||
| ENST00000683558.1:n.699-4G>C | ||
| ENST00000683567.1:n.724-4G>C | ||
| ENST00000683955.1:n.894-4G>C | ||
| ENST00000684142.1:c.*172-4G>C | ENSP00000508008.1:n.*172-4G>C | |
| ENST00000684252.1:n.894-4G>C | ||
| ENST00000684255.1:c.*202-4G>C | ENSP00000507398.1:n.*202-4G>C | |
| ENST00000684315.1:n.1230-4G>C | ||
| ENST00000684345.1:c.*172-4G>C | ENSP00000507163.1:n.*172-4G>C | |
| ENST00000684499.1:c.*602-4G>C | ENSP00000506800.1:n.*602-4G>C | |
| ENST00000684682.1:c.162-4G>C | ENSP00000507326.1:n.162-4G>C | |
| ENST00000354202.9:c.497-4G>C MANE Select | ENSP00000346142.4:n.497-4G>C | |
| ENST00000639704.1:c.404-4G>C | ENSP00000491336.1:n.404-4G>C | |
| ENST00000640102.1:c.*150-4G>C | ENSP00000492027.1:n.*150-4G>C | |
| ENST00000640747.1:c.*172-4G>C | ENSP00000492730.1:n.*172-4G>C | |
| ENST00000354202.8:c.497-4G>C | ENSP00000346142.4:n.497-4G>C | |
| ENST00000392834.7:c.*202-4G>C | ENSP00000376579.3:n.*202-4G>C | |
| ENST00000409993.6:c.497-4G>C | ENSP00000386597.2:n.497-4G>C | |
| ENST00000414373.5:c.*243-4G>C | ENSP00000402019.1:n.*243-4G>C | |
| ENST00000442480.1:c.347-4G>C | ENSP00000406591.1:n.347-4G>C | |
| ENST00000481084.5:n.1126-4G>C | ||
| ENST00000525456.5:n.500-4G>C | ||
| ENST00000530052.1:n.395-4G>C | ||
| ENST00000533687.1:n.505G>C | ||
| NM_001382.3:c.497-4G>C | NP_001373.2:n.497-4G>C | |
| XM_005271422.2:c.497-4G>C | XP_005271479.1:n.497-4G>C | |
| XM_011542648.1:c.176-4G>C | XP_011540950.1:n.176-4G>C | |
| XR_947801.1:n.933-4G>C | ||
| XM_005271422.3:c.497-4G>C | XP_005271479.1:n.497-4G>C | |
| XM_011542648.2:c.176-4G>C | XP_011540950.1:n.176-4G>C | |
| XM_017017293.2:c.176-4G>C | XP_016872782.1:n.176-4G>C | |
| XM_017017294.2:c.497-4G>C | XP_016872783.1:n.497-4G>C | |
| XM_017017295.1:c.-20-4G>C | XP_016872784.1:n.-20-4G>C | |
| XR_001747785.2:n.720-4G>C | ||
| XR_947801.2:n.720-4G>C | ||
| NM_001382.4:c.497-4G>C MANE Select | NP_001373.2:n.497-4G>C |