Linked Data
ClinVar Variation Id:
423559
ClinVar RCV Id:
RCV000485964
dbSNP Id:
rs1064796494
gnomAD v4:
5-11384946-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.11384946G>T , CM000667.2:g.11384946G>T | GRCh38 |
| NC_000005.9:g.11385058G>T , CM000667.1:g.11385058G>T | GRCh37 |
| NC_000005.8:g.11438058G>T | NCBI36 |
| NG_023544.1:g.524053C>A | |
| NG_023544.2:g.524053C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706271.1:c.167-20056C>A | ENSP00000516315.1:n.167-20056C>A | |
| ENST00000304623.13:c.896C>A MANE Select | ENSP00000307134.8:p.Ser299Ter | |
| ENST00000304623.12:c.896C>A | ENSP00000307134.8:p.Ser299Ter | |
| ENST00000502551.5:c.398-20056C>A | ENSP00000422389.1:n.398-20056C>A | |
| ENST00000503622.5:c.167-20056C>A | ENSP00000426887.1:n.167-20056C>A | |
| ENST00000504354.5:n.217-20056C>A | ||
| ENST00000504499.5:c.612+12085C>A | ENSP00000421000.1:n.612+12085C>A | |
| ENST00000511278.5:n.542-20056C>A | ||
| ENST00000511377.5:c.623C>A | ENSP00000426510.1:p.Ser208Ter | |
| ENST00000513588.5:c.440-20056C>A | ENSP00000421093.1:n.440-20056C>A | |
| NM_001288715.1:c.623C>A | NP_001275644.1:p.Ser208Ter | |
| NM_001288716.1:c.167-20056C>A | NP_001275645.1:n.167-20056C>A | |
| NM_001288717.1:c.-123+12085C>A | NP_001275646.1:n.-123+12085C>A | |
| NM_001332.3:c.896C>A | NP_001323.1:p.Ser299Ter | |
| NR_109988.1:n.630-20056C>A | ||
| XM_005248251.2:c.896C>A | XP_005248308.1:p.Ser299Ter | |
| XM_005248252.1:c.854C>A | XP_005248309.1:p.Ser285Ter | |
| XM_005248253.1:c.623C>A | XP_005248310.1:p.Ser208Ter | |
| XM_011513967.1:c.623C>A | XP_011512269.1:p.Ser208Ter | |
| NM_001364128.1:c.167-20056C>A | NP_001351057.1:n.167-20056C>A | |
| XM_005248251.3:c.896C>A | XP_005248308.1:p.Ser299Ter | |
| XM_005248252.2:c.854C>A | XP_005248309.1:p.Ser285Ter | |
| XM_011513967.2:c.623C>A | XP_011512269.1:p.Ser208Ter | |
| XM_017009072.1:c.440-20056C>A | XP_016864561.1:n.440-20056C>A | |
| XM_017009073.1:c.398-20056C>A | XP_016864562.1:n.398-20056C>A | |
| XM_017009074.1:c.440-20056C>A | XP_016864563.1:n.440-20056C>A | |
| XM_017009075.2:c.167-20056C>A | XP_016864564.1:n.167-20056C>A | |
| NM_001332.4:c.896C>A MANE Select | NP_001323.1:p.Ser299Ter | |
| NM_001288717.2:c.-123+12085C>A | NP_001275646.1:n.-123+12085C>A | |
| NR_109988.2:n.1033-20056C>A | ||
| NM_001364128.2:c.167-20056C>A | NP_001351057.1:n.167-20056C>A |