Linked Data
ClinVar Variation Id:
843760
ClinVar RCV Id:
RCV001046449
dbSNP Id:
rs2063062410
gnomAD v4:
14-65076579-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076579T>C , CM000676.2:g.65076579T>C | GRCh38 |
| NC_000014.8:g.65543297T>C , CM000676.1:g.65543297T>C | GRCh37 |
| NC_000014.7:g.64613050T>C | NCBI36 |
| NG_029830.1:g.30931A>G , LRG_530:g.30931A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.161A>G | ENSP00000452206.2:p.Lys54Arg | |
| ENST00000556979.6:c.*833A>G | ENSP00000452378.1:n.*833A>G | |
| ENST00000358664.9:c.380A>G MANE Select | ENSP00000351490.4:p.Lys127Arg | |
| ENST00000651648.1:c.145-6210A>G | ENSP00000498863.1:n.145-6210A>G | |
| ENST00000284165.10:c.*1224A>G | ENSP00000284165.6:n.*1224A>G | |
| ENST00000341653.6:c.171+17129A>G | ENSP00000342482.2:n.171+17129A>G | |
| ENST00000358402.8:c.353A>G | ENSP00000351175.4:p.Lys118Arg | |
| ENST00000358664.8:c.380A>G | ENSP00000351490.4:p.Lys127Arg | |
| ENST00000394606.6:c.*153A>G | ENSP00000378104.2:n.*153A>G | |
| ENST00000553928.5:c.*169A>G | ENSP00000451907.1:n.*169A>G | |
| ENST00000555419.5:c.272A>G | ENSP00000452405.1:p.Lys91Arg | |
| ENST00000555932.5:c.121A>G | ENSP00000450763.1:p.Arg41Gly | |
| ENST00000557277.5:c.191A>G | ENSP00000450955.1:p.Lys64Arg | |
| ENST00000618858.4:c.*169A>G | ENSP00000480127.1:n.*169A>G | |
| NM_001271069.1:c.144+17129A>G | NP_001257998.1:n.144+17129A>G | |
| NM_002382.4:c.380A>G | NP_002373.3:p.Lys127Arg | |
| NM_145112.2:c.353A>G | NP_660087.1:p.Lys118Arg | |
| NM_145113.2:c.*169A>G | NP_660088.1:n.*169A>G | |
| NM_197957.3:c.171+17129A>G | NP_932061.1:n.171+17129A>G | |
| NR_073137.1:n.504A>G | ||
| XR_429315.2:n.667A>G | ||
| XR_943450.1:n.748A>G | ||
| XR_943451.1:n.764A>G | ||
| XR_943452.1:n.710A>G | ||
| NM_001320415.1:c.191A>G | NP_001307344.1:p.Lys64Arg | |
| XM_017021312.2:c.191A>G | XP_016876801.1:p.Lys64Arg | |
| XM_017021313.1:c.191A>G | XP_016876802.1:p.Lys64Arg | |
| XR_001750326.2:n.725A>G | ||
| XR_001750327.2:n.644A>G | ||
| XR_002957553.1:n.1158A>G | ||
| XR_943450.3:n.748A>G | ||
| XR_943451.3:n.764A>G | ||
| XR_943452.3:n.709A>G | ||
| NM_001320415.2:c.191A>G | NP_001307344.1:p.Lys64Arg | |
| NM_002382.5:c.380A>G MANE Select | NP_002373.3:p.Lys127Arg | |
| NM_145112.3:c.353A>G | NP_660087.1:p.Lys118Arg | |
| NM_145113.3:c.*169A>G | NP_660088.1:n.*169A>G | |
| NM_001271069.2:c.144+17129A>G | NP_001257998.1:n.144+17129A>G | |
| NM_197957.4:c.171+17129A>G | NP_932061.1:n.171+17129A>G |