Linked Data
ClinVar Variation Id:
238254
dbSNP Id:
rs114829239
ExAC:
14:75516351 T / C
gnomAD v2:
14-75516351-T-C
gnomAD v3:
14-75049648-T-C
gnomAD v4:
14-75049648-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75049648T>C , CM000676.2:g.75049648T>C | GRCh38 |
| NC_000014.8:g.75516351T>C , CM000676.1:g.75516351T>C | GRCh37 |
| NC_000014.7:g.74586104T>C | NCBI36 |
| NG_008649.1:g.6885A>G , LRG_217:g.6885A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355774.7:c.8A>G MANE Select | ENSP00000348020.2:p.Lys3Arg | |
| ENST00000355774.6:c.8A>G | ENSP00000348020.2:p.Lys3Arg | |
| ENST00000380968.6:c.8A>G | ENSP00000370355.3:p.Lys3Arg | |
| ENST00000553263.1:c.8A>G | ENSP00000451192.1:p.Lys3Arg | |
| ENST00000556257.5:c.8A>G | ENSP00000451540.1:p.Lys3Arg | |
| ENST00000556740.5:c.8A>G | ENSP00000452316.1:p.Lys3Arg | |
| ENST00000557648.1:c.8A>G | ENSP00000451095.1:p.Lys3Arg | |
| NM_001040108.1:c.8A>G , LRG_217t1:c.8A>G | NP_001035197.1:p.Lys3Arg | |
| NM_014381.2:c.8A>G | NP_055196.2:p.Lys3Arg | |
| XM_005267531.3:c.8A>G | XP_005267588.1:p.Lys3Arg | |
| XM_005267532.3:c.8A>G | XP_005267589.1:p.Lys3Arg | |
| XM_005267533.3:c.8A>G | XP_005267590.1:p.Lys3Arg | |
| XM_005267534.2:c.8A>G | XP_005267591.1:p.Lys3Arg | |
| XM_006720116.2:c.8A>G | XP_006720179.1:p.Lys3Arg | |
| XM_011536646.1:c.8A>G | XP_011534948.1:p.Lys3Arg | |
| XM_011536647.1:c.8A>G | XP_011534949.1:p.Lys3Arg | |
| XM_011536648.1:c.8A>G | XP_011534950.1:p.Lys3Arg | |
| XR_245681.2:n.224A>G | ||
| XM_005267532.5:c.8A>G | XP_005267589.1:p.Lys3Arg | |
| XM_005267533.5:c.8A>G | XP_005267590.1:p.Lys3Arg | |
| XM_005267534.3:c.8A>G | XP_005267591.1:p.Lys3Arg | |
| XM_006720116.4:c.8A>G | XP_006720179.1:p.Lys3Arg | |
| XM_011536646.3:c.8A>G | XP_011534948.1:p.Lys3Arg | |
| XM_017021219.2:c.8A>G | XP_016876708.1:p.Lys3Arg | |
| XM_024449538.1:c.8A>G | XP_024305306.1:p.Lys3Arg | |
| XR_001750225.2:n.171A>G | ||
| XR_001750227.2:n.171A>G | ||
| XR_001750228.2:n.171A>G | ||
| XR_001750229.2:n.171A>G | ||
| XR_001750230.2:n.171A>G | ||
| XR_002957544.1:n.171A>G | ||
| XR_245681.4:n.171A>G | ||
| NM_001040108.2:c.8A>G MANE Select | NP_001035197.1:p.Lys3Arg | |
| NM_014381.3:c.8A>G | NP_055196.2:p.Lys3Arg |