Linked Data
ClinVar Variation Id:
178765
dbSNP Id:
rs141873943
ExAC:
14:74156101 C / G
gnomAD v2:
14-74156101-C-G
gnomAD v3:
14-73689398-C-G
gnomAD v4:
14-73689398-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73689398C>G , CM000676.2:g.73689398C>G | GRCh38 |
| NC_000014.8:g.74156101C>G , CM000676.1:g.74156101C>G | GRCh37 |
| NC_000014.7:g.73225854C>G | NCBI36 |
| NG_028083.1:g.49524C>G | |
| NG_028083.2:g.49524C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553645.7:c.415C>G MANE Select | ENSP00000452037.1:p.Leu139Val | |
| ENST00000311089.7:c.76C>G | ENSP00000310360.3:p.Leu26Val | |
| ENST00000553645.6:c.415C>G | ENSP00000452037.1:p.Leu139Val | |
| ENST00000554113.5:c.76C>G | ENSP00000452368.1:p.Leu26Val | |
| ENST00000554159.1:c.278+2013C>G | ENSP00000451264.1:n.278+2013C>G | |
| ENST00000554339.5:c.154C>G | ENSP00000450744.1:p.Leu52Val | |
| ENST00000554871.5:c.298C>G | ENSP00000451834.1:p.Leu100Val | |
| ENST00000555631.6:c.298C>G | ENSP00000451547.2:p.Leu100Val | |
| ENST00000559993.1:c.76C>G | ENSP00000453439.1:p.Leu26Val | |
| NM_001201366.1:c.298C>G | NP_001188295.1:p.Leu100Val | |
| NM_031427.3:c.415C>G | NP_113615.2:p.Leu139Val | |
| XM_011537204.1:c.298C>G | XP_011535506.1:p.Leu100Val | |
| XM_017021679.2:c.298C>G | XP_016877168.1:p.Leu100Val | |
| XM_024449715.1:c.298C>G | XP_024305483.1:p.Leu100Val | |
| NM_031427.4:c.415C>G MANE Select | NP_113615.2:p.Leu139Val | |
| NM_001201366.2:c.298C>G | NP_001188295.1:p.Leu100Val |