Linked Data
ClinVar Variation Id:
515232
dbSNP Id:
rs201212542
ExAC:
2:32370003 C / T
gnomAD v2:
2-32370003-C-T
gnomAD v3:
2-32144934-C-T
gnomAD v4:
2-32144934-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32144934C>T , CM000664.2:g.32144934C>T | GRCh38 |
| NC_000002.11:g.32370003C>T , CM000664.1:g.32370003C>T | GRCh37 |
| NC_000002.10:g.32223507C>T | NCBI36 |
| NG_008730.1:g.86324C>T , LRG_714:g.86324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*1277-3C>T | ENSP00000515816.1:n.*1277-3C>T | |
| ENST00000315285.9:c.1617-3C>T MANE Select | ENSP00000320885.3:n.1617-3C>T | |
| ENST00000621856.2:c.1614-3C>T | ENSP00000482496.2:n.1614-3C>T | |
| ENST00000642281.1:c.1354-3C>T | ||
| ENST00000642455.1:c.1518-3C>T | ENSP00000493827.1:n.1518-3C>T | |
| ENST00000642751.1:c.1390+1519C>T | ||
| ENST00000642999.1:c.1359-3C>T | ENSP00000496589.1:n.1359-3C>T | |
| ENST00000643334.1:c.1197-3C>T | ||
| ENST00000644408.1:c.1493-3C>T | ||
| ENST00000644954.1:c.1263-3C>T | ENSP00000494312.1:n.1263-3C>T | |
| ENST00000645159.1:n.2354-3C>T | ||
| ENST00000645671.1:c.1066+1519C>T | ||
| ENST00000645730.1:c.796-3C>T | ||
| ENST00000646082.1:c.1263-3C>T | ||
| ENST00000646571.1:c.1521-3C>T | ENSP00000495015.1:n.1521-3C>T | |
| ENST00000647007.1:n.1309-3C>T | ||
| ENST00000647133.1:c.1117-3C>T | ||
| ENST00000315285.7:c.1617-3C>T | ENSP00000320885.3:n.1617-3C>T | |
| ENST00000345662.5:c.1521-3C>T | ENSP00000340817.1:n.1521-3C>T | |
| ENST00000615843.4:c.1617-3C>T | ENSP00000480893.1:n.1617-3C>T | |
| ENST00000621856.1:c.1359-3C>T | ENSP00000482496.1:n.1359-3C>T | |
| NM_014946.3:c.1617-3C>T , LRG_714t1:c.1617-3C>T | NP_055761.2:n.1617-3C>T | |
| NM_199436.1:c.1521-3C>T | NP_955468.1:n.1521-3C>T | |
| XM_005264516.3:c.1614-3C>T | XP_005264573.1:n.1614-3C>T | |
| XM_011533067.1:c.1616+1519C>T | XP_011531369.1:n.1616+1519C>T | |
| NM_001363823.1:c.1614-3C>T | NP_001350752.1:n.1614-3C>T | |
| NM_001363875.1:c.1518-3C>T | NP_001350804.1:n.1518-3C>T | |
| XM_005264516.5:c.1614-3C>T | XP_005264573.1:n.1614-3C>T | |
| XM_011533067.2:c.1616+1519C>T | XP_011531369.1:n.1616+1519C>T | |
| XM_017004778.2:c.1520+1519C>T | XP_016860267.1:n.1520+1519C>T | |
| NM_001363823.2:c.1614-3C>T | NP_001350752.1:n.1614-3C>T | |
| NM_001363875.2:c.1518-3C>T | NP_001350804.1:n.1518-3C>T | |
| NM_001377959.1:c.1520+1519C>T | NP_001364888.1:n.1520+1519C>T | |
| NM_014946.4:c.1617-3C>T MANE Select | NP_055761.2:n.1617-3C>T | |
| NM_199436.2:c.1521-3C>T | NP_955468.1:n.1521-3C>T |