Linked Data
ClinVar Variation Id:
3167129
ClinVar RCV Id:
RCV004464494
dbSNP Id:
rs201043143
ExAC:
15:64422442 C / G
gnomAD v2:
15-64422442-C-G
gnomAD v3:
15-64130243-C-G
gnomAD v4:
15-64130243-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64130243C>G , CM000677.2:g.64130243C>G | GRCh38 |
| NC_000015.9:g.64422442C>G , CM000677.1:g.64422442C>G | GRCh37 |
| NC_000015.8:g.62209495C>G | NCBI36 |
| NG_029708.1:g.39360C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559844.6:c.937C>G MANE Select | ENSP00000453785.1:p.Leu313Val | |
| ENST00000261889.9:c.937C>G | ENSP00000261889.5:p.Leu313Val | |
| ENST00000380285.7:c.*542C>G | ENSP00000369638.3:n.*542C>G | |
| ENST00000558040.5:c.309+12077C>G | ENSP00000452668.1:n.309+12077C>G | |
| ENST00000559844.5:c.937C>G | ENSP00000453785.1:p.Leu313Val | |
| ENST00000560260.5:c.*417C>G | ENSP00000452759.1:n.*417C>G | |
| ENST00000560829.5:c.283C>G | ENSP00000452651.1:p.Leu95Val | |
| ENST00000561026.5:c.742C>G | ENSP00000453567.1:p.Leu248Val | |
| NM_001242933.1:c.937C>G | NP_001229862.1:p.Leu313Val | |
| NM_003099.4:c.937C>G | NP_003090.2:p.Leu313Val | |
| NM_148955.3:c.742C>G | NP_683758.1:p.Leu248Val | |
| XM_005254611.1:c.463C>G | XP_005254668.1:p.Leu155Val | |
| XM_005254611.3:c.463C>G | XP_005254668.1:p.Leu155Val | |
| XR_001751380.1:n.1110C>G | ||
| XR_001751381.1:n.1110C>G | ||
| NM_003099.5:c.937C>G MANE Select | NP_003090.2:p.Leu313Val | |
| NM_001242933.2:c.937C>G | NP_001229862.1:p.Leu313Val | |
| NM_148955.4:c.742C>G | NP_683758.1:p.Leu248Val |