Linked Data
ClinVar Variation Id:
468575
ClinVar RCV Id:
RCV000548239
dbSNP Id:
rs1421791559
gnomAD v2:
2-32339894-G-A
gnomAD v4:
2-32114825-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32114825G>A , CM000664.2:g.32114825G>A | GRCh38 |
| NC_000002.11:g.32339894G>A , CM000664.1:g.32339894G>A | GRCh37 |
| NC_000002.10:g.32193398G>A | NCBI36 |
| NG_008730.1:g.56215G>A , LRG_714:g.56215G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*530G>A | ENSP00000515816.1:n.*530G>A | |
| ENST00000315285.9:c.870G>A MANE Select | ENSP00000320885.3:p.Lys290= | |
| ENST00000621856.2:c.867G>A | ENSP00000482496.2:p.Lys289= | |
| ENST00000642281.1:c.754G>A | ||
| ENST00000642455.1:c.771G>A | ENSP00000493827.1:p.Lys257= | |
| ENST00000642751.1:c.644G>A | ||
| ENST00000642999.1:c.612G>A | ENSP00000496589.1:p.Lys204= | |
| ENST00000643327.1:c.29G>A | ||
| ENST00000643334.1:c.450G>A | ||
| ENST00000644408.1:c.746G>A | ||
| ENST00000644954.1:c.516G>A | ENSP00000494312.1:p.Lys172= | |
| ENST00000645671.1:c.320G>A | ||
| ENST00000645730.1:c.217G>A | ||
| ENST00000646082.1:c.517-877G>A | ||
| ENST00000646571.1:c.774G>A | ENSP00000495015.1:p.Lys258= | |
| ENST00000647007.1:n.562G>A | ||
| ENST00000647133.1:c.445G>A | ||
| ENST00000315285.7:c.870G>A | ENSP00000320885.3:p.Lys290= | |
| ENST00000345662.5:c.774G>A | ENSP00000340817.1:p.Lys258= | |
| ENST00000615843.4:c.870G>A | ENSP00000480893.1:p.Lys290= | |
| ENST00000621856.1:c.612G>A | ENSP00000482496.1:p.Lys204= | |
| NM_014946.3:c.870G>A , LRG_714t1:c.870G>A | NP_055761.2:p.Lys290= | |
| NM_199436.1:c.774G>A | NP_955468.1:p.Lys258= | |
| XM_005264516.3:c.867G>A | XP_005264573.1:p.Lys289= | |
| XM_011533067.1:c.870G>A | XP_011531369.1:p.Lys290= | |
| NM_001363823.1:c.867G>A | NP_001350752.1:p.Lys289= | |
| NM_001363875.1:c.771G>A | NP_001350804.1:p.Lys257= | |
| XM_005264516.5:c.867G>A | XP_005264573.1:p.Lys289= | |
| XM_011533067.2:c.870G>A | XP_011531369.1:p.Lys290= | |
| XM_017004778.2:c.774G>A | XP_016860267.1:p.Lys258= | |
| NM_001363823.2:c.867G>A | NP_001350752.1:p.Lys289= | |
| NM_001363875.2:c.771G>A | NP_001350804.1:p.Lys257= | |
| NM_001377959.1:c.774G>A | NP_001364888.1:p.Lys258= | |
| NM_014946.4:c.870G>A MANE Select | NP_055761.2:p.Lys290= | |
| NM_199436.2:c.774G>A | NP_955468.1:p.Lys258= |