Linked Data
ClinVar Variation Id:
313812
ClinVar RCV Id:
RCV000284585
dbSNP Id:
rs559154342
gnomAD v2:
14-65542946-T-A
gnomAD v3:
14-65076228-T-A
gnomAD v4:
14-65076228-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076228T>A , CM000676.2:g.65076228T>A | GRCh38 |
| NC_000014.8:g.65542946T>A , CM000676.1:g.65542946T>A | GRCh37 |
| NC_000014.7:g.64612699T>A | NCBI36 |
| NG_029830.1:g.31282A>T , LRG_530:g.31282A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000556892.6:c.*248A>T | ENSP00000452206.2:n.*248A>T | |
| ENST00000556979.6:c.*1184A>T | ENSP00000452378.1:n.*1184A>T | |
| ENST00000358664.9:c.*248A>T MANE Select | ENSP00000351490.4:n.*248A>T | |
| ENST00000651648.1:c.145-5859A>T | ENSP00000498863.1:n.145-5859A>T | |
| ENST00000284165.10:c.*1575A>T | ENSP00000284165.6:n.*1575A>T | |
| ENST00000341653.6:c.171+17480A>T | ENSP00000342482.2:n.171+17480A>T | |
| ENST00000358402.8:c.*248A>T | ENSP00000351175.4:n.*248A>T | |
| ENST00000358664.8:c.*248A>T | ENSP00000351490.4:n.*248A>T | |
| ENST00000394606.6:c.*504A>T | ENSP00000378104.2:n.*504A>T | |
| ENST00000555419.5:c.623A>T | ENSP00000452405.1:n.623A>T | |
| ENST00000555932.5:c.*223A>T | ENSP00000450763.1:n.*223A>T | |
| ENST00000618858.4:c.*520A>T | ENSP00000480127.1:n.*520A>T | |
| NM_001271069.1:c.144+17480A>T | NP_001257998.1:n.144+17480A>T | |
| NM_002382.4:c.*248A>T | NP_002373.3:n.*248A>T | |
| NM_145112.2:c.*248A>T | NP_660087.1:n.*248A>T | |
| NM_145113.2:c.*520A>T | NP_660088.1:n.*520A>T | |
| NM_197957.3:c.171+17480A>T | NP_932061.1:n.171+17480A>T | |
| NR_073137.1:n.855A>T | ||
| XR_429315.2:n.1018A>T | ||
| NM_001320415.1:c.*248A>T | NP_001307344.1:n.*248A>T | |
| XM_017021312.2:c.*248A>T | XP_016876801.1:n.*248A>T | |
| XM_017021313.1:c.*248A>T | XP_016876802.1:n.*248A>T | |
| XR_001750326.2:n.1076A>T | ||
| XR_001750327.2:n.995A>T | ||
| XR_002957553.1:n.1509A>T | ||
| XR_943450.3:n.1099A>T | ||
| XR_943451.3:n.1115A>T | ||
| XR_943452.3:n.1060A>T | ||
| NM_001320415.2:c.*248A>T | NP_001307344.1:n.*248A>T | |
| NM_002382.5:c.*248A>T MANE Select | NP_002373.3:n.*248A>T | |
| NM_145112.3:c.*248A>T | NP_660087.1:n.*248A>T | |
| NM_145113.3:c.*520A>T | NP_660088.1:n.*520A>T | |
| NM_001271069.2:c.144+17480A>T | NP_001257998.1:n.144+17480A>T | |
| NM_197957.4:c.171+17480A>T | NP_932061.1:n.171+17480A>T |