Linked Data
ClinVar Variation Id:
260352
ClinVar RCV Id:
RCV000254513
RCV001520529
RCV001640546
RCV001807189
RCV001807187
RCV001807188
RCV001807186
dbSNP Id:
rs303808
ExAC:
12:52163789 G / A
gnomAD v2:
12-52163789-G-A
gnomAD v3:
12-51770005-G-A
gnomAD v4:
12-51770005-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51770005G>A , CM000674.2:g.51770005G>A | GRCh38 |
| NC_000012.11:g.52163789G>A , CM000674.1:g.52163789G>A | GRCh37 |
| NC_000012.10:g.50450056G>A | NCBI36 |
| NG_021180.2:g.183770G>A | |
| NG_021180.3:g.185048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.3490+20G>A MANE Plus Clinical | ENSP00000346534.4:n.3490+20G>A | |
| ENST00000548086.3:c.1337+20G>A | ||
| ENST00000627620.5:c.3490+20G>A MANE Select | ENSP00000487583.2:n.3490+20G>A | |
| ENST00000636458.1:n.29+20G>A | ||
| ENST00000636945.2:c.1554+20G>A | ||
| ENST00000662684.1:c.3490+20G>A | ENSP00000499636.1:n.3490+20G>A | |
| ENST00000668547.1:c.3490+20G>A | ENSP00000499691.1:n.3490+20G>A | |
| ENST00000354534.10:c.3490+20G>A | ENSP00000346534.4:n.3490+20G>A | |
| ENST00000355133.7:c.3490+20G>A | ENSP00000347255.4:n.3490+20G>A | |
| ENST00000545061.5:c.3490+20G>A | ENSP00000440360.1:n.3490+20G>A | |
| ENST00000599343.5:c.3523+20G>A | ENSP00000476447.3:n.3523+20G>A | |
| ENST00000627620.2:c.3490+20G>A | ENSP00000487583.1:n.3490+20G>A | |
| ENST00000627665.1:n.502G>A | ||
| NM_001177984.2:c.3490+20G>A | NP_001171455.1:n.3490+20G>A | |
| NM_014191.3:c.3490+20G>A | NP_055006.1:n.3490+20G>A | |
| XM_006719556.2:c.3490+20G>A | XP_006719619.1:n.3490+20G>A | |
| XM_011538650.1:c.3490+20G>A | XP_011536952.1:n.3490+20G>A | |
| XM_011538651.1:c.3490+20G>A | XP_011536953.1:n.3490+20G>A | |
| NM_001330260.1:c.3490+20G>A | NP_001317189.1:n.3490+20G>A | |
| XM_006719556.4:c.3490+20G>A | XP_006719619.1:n.3490+20G>A | |
| XM_011538651.3:c.3490+20G>A | XP_011536953.1:n.3490+20G>A | |
| XM_017019794.2:c.3490+20G>A | XP_016875283.1:n.3490+20G>A | |
| XM_017019795.2:c.3490+20G>A | XP_016875284.1:n.3490+20G>A | |
| XM_017019796.1:c.3490+20G>A | XP_016875285.1:n.3490+20G>A | |
| NM_001330260.2:c.3490+20G>A MANE Select | NP_001317189.1:n.3490+20G>A | |
| NM_001369788.1:c.3490+20G>A | NP_001356717.1:n.3490+20G>A | |
| NM_014191.4:c.3490+20G>A MANE Plus Clinical | NP_055006.1:n.3490+20G>A | |
| NM_001177984.3:c.3490+20G>A | NP_001171455.1:n.3490+20G>A |