Linked Data
ClinVar Variation Id:
485703
dbSNP Id:
rs748675729
ExAC:
14:65543346 G / C
gnomAD v2:
14-65543346-G-C
gnomAD v3:
14-65076628-G-C
gnomAD v4:
14-65076628-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076628G>C , CM000676.2:g.65076628G>C | GRCh38 |
| NC_000014.8:g.65543346G>C , CM000676.1:g.65543346G>C | GRCh37 |
| NC_000014.7:g.64613099G>C | NCBI36 |
| NG_029830.1:g.30882C>G , LRG_530:g.30882C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.112C>G | ENSP00000452206.2:p.Leu38Val | |
| ENST00000556979.6:c.*784C>G | ENSP00000452378.1:n.*784C>G | |
| ENST00000358664.9:c.331C>G MANE Select | ENSP00000351490.4:p.Leu111Val | |
| ENST00000651648.1:c.145-6259C>G | ENSP00000498863.1:n.145-6259C>G | |
| ENST00000284165.10:c.*1175C>G | ENSP00000284165.6:n.*1175C>G | |
| ENST00000341653.6:c.171+17080C>G | ENSP00000342482.2:n.171+17080C>G | |
| ENST00000358402.8:c.304C>G | ENSP00000351175.4:p.Leu102Val | |
| ENST00000358664.8:c.331C>G | ENSP00000351490.4:p.Leu111Val | |
| ENST00000394606.6:c.*104C>G | ENSP00000378104.2:n.*104C>G | |
| ENST00000553928.5:c.*120C>G | ENSP00000451907.1:n.*120C>G | |
| ENST00000555419.5:c.223C>G | ENSP00000452405.1:p.Leu75Val | |
| ENST00000555932.5:c.72C>G | ENSP00000450763.1:p.Asn24Lys | |
| ENST00000556892.5:c.112C>G | ENSP00000452206.1:p.Leu38Val | |
| ENST00000557277.5:c.142C>G | ENSP00000450955.1:p.Leu48Val | |
| ENST00000618858.4:c.*120C>G | ENSP00000480127.1:n.*120C>G | |
| NM_001271069.1:c.144+17080C>G | NP_001257998.1:n.144+17080C>G | |
| NM_002382.4:c.331C>G | NP_002373.3:p.Leu111Val | |
| NM_145112.2:c.304C>G | NP_660087.1:p.Leu102Val | |
| NM_145113.2:c.*120C>G | NP_660088.1:n.*120C>G | |
| NM_197957.3:c.171+17080C>G | NP_932061.1:n.171+17080C>G | |
| NR_073137.1:n.455C>G | ||
| XR_429315.2:n.618C>G | ||
| XR_943450.1:n.699C>G | ||
| XR_943451.1:n.715C>G | ||
| XR_943452.1:n.661C>G | ||
| NM_001320415.1:c.142C>G | NP_001307344.1:p.Leu48Val | |
| XM_017021312.2:c.142C>G | XP_016876801.1:p.Leu48Val | |
| XM_017021313.1:c.142C>G | XP_016876802.1:p.Leu48Val | |
| XR_001750326.2:n.676C>G | ||
| XR_001750327.2:n.595C>G | ||
| XR_002957553.1:n.1109C>G | ||
| XR_943450.3:n.699C>G | ||
| XR_943451.3:n.715C>G | ||
| XR_943452.3:n.660C>G | ||
| NM_001320415.2:c.142C>G | NP_001307344.1:p.Leu48Val | |
| NM_002382.5:c.331C>G MANE Select | NP_002373.3:p.Leu111Val | |
| NM_145112.3:c.304C>G | NP_660087.1:p.Leu102Val | |
| NM_145113.3:c.*120C>G | NP_660088.1:n.*120C>G | |
| NM_001271069.2:c.144+17080C>G | NP_001257998.1:n.144+17080C>G | |
| NM_197957.4:c.171+17080C>G | NP_932061.1:n.171+17080C>G |