Linked Data
ClinVar Variation Id:
313809
ClinVar RCV Id:
RCV000266837
dbSNP Id:
rs561238353
gnomAD v3:
14-65076132-A-T
gnomAD v4:
14-65076132-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076132A>T , CM000676.2:g.65076132A>T | GRCh38 |
| NC_000014.8:g.65542850A>T , CM000676.1:g.65542850A>T | GRCh37 |
| NC_000014.7:g.64612603A>T | NCBI36 |
| NG_029830.1:g.31378T>A , LRG_530:g.31378T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.*344T>A | ENSP00000452206.2:n.*344T>A | |
| ENST00000556979.6:c.*1280T>A | ENSP00000452378.1:n.*1280T>A | |
| ENST00000358664.9:c.*344T>A MANE Select | ENSP00000351490.4:n.*344T>A | |
| ENST00000651648.1:c.145-5763T>A | ENSP00000498863.1:n.145-5763T>A | |
| ENST00000284165.10:c.*1671T>A | ENSP00000284165.6:n.*1671T>A | |
| ENST00000341653.6:c.171+17576T>A | ENSP00000342482.2:n.171+17576T>A | |
| ENST00000358402.8:c.*344T>A | ENSP00000351175.4:n.*344T>A | |
| ENST00000358664.8:c.*344T>A | ENSP00000351490.4:n.*344T>A | |
| ENST00000394606.6:c.*600T>A | ENSP00000378104.2:n.*600T>A | |
| ENST00000555419.5:c.719T>A | ENSP00000452405.1:n.719T>A | |
| ENST00000555932.5:c.*319T>A | ENSP00000450763.1:n.*319T>A | |
| ENST00000618858.4:c.*616T>A | ENSP00000480127.1:n.*616T>A | |
| NM_001271069.1:c.144+17576T>A | NP_001257998.1:n.144+17576T>A | |
| NM_002382.4:c.*344T>A | NP_002373.3:n.*344T>A | |
| NM_145112.2:c.*344T>A | NP_660087.1:n.*344T>A | |
| NM_145113.2:c.*616T>A | NP_660088.1:n.*616T>A | |
| NM_197957.3:c.171+17576T>A | NP_932061.1:n.171+17576T>A | |
| NR_073137.1:n.951T>A | ||
| XR_429315.2:n.1114T>A | ||
| NM_001320415.1:c.*344T>A | NP_001307344.1:n.*344T>A | |
| XM_017021312.2:c.*344T>A | XP_016876801.1:n.*344T>A | |
| XM_017021313.1:c.*344T>A | XP_016876802.1:n.*344T>A | |
| XR_001750326.2:n.1172T>A | ||
| XR_001750327.2:n.1091T>A | ||
| XR_002957553.1:n.1605T>A | ||
| XR_943450.3:n.1195T>A | ||
| XR_943451.3:n.1211T>A | ||
| XR_943452.3:n.1156T>A | ||
| NM_001320415.2:c.*344T>A | NP_001307344.1:n.*344T>A | |
| NM_002382.5:c.*344T>A MANE Select | NP_002373.3:n.*344T>A | |
| NM_145112.3:c.*344T>A | NP_660087.1:n.*344T>A | |
| NM_145113.3:c.*616T>A | NP_660088.1:n.*616T>A | |
| NM_001271069.2:c.144+17576T>A | NP_001257998.1:n.144+17576T>A | |
| NM_197957.4:c.171+17576T>A | NP_932061.1:n.171+17576T>A |