Linked Data
ClinVar Variation Id:
488394
dbSNP Id:
rs377510027
ExAC:
2:136669017 A / G
gnomAD v2:
2-136669017-A-G
gnomAD v3:
2-135911447-A-G
gnomAD v4:
2-135911447-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135911447A>G , CM000664.2:g.135911447A>G | GRCh38 |
| NC_000002.11:g.136669017A>G , CM000664.1:g.136669017A>G | GRCh37 |
| NC_000002.10:g.136385487A>G | NCBI36 |
| NG_034149.1:g.79238T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264161.9:c.1277T>C MANE Select | ENSP00000264161.4:p.Leu426Ser | |
| ENST00000264161.8:c.1277T>C | ENSP00000264161.4:p.Leu426Ser | |
| ENST00000422708.3:c.338T>C | ENSP00000387508.1:p.Leu113Ser | |
| ENST00000478212.5:n.171T>C | ||
| ENST00000489964.5:n.526T>C | ||
| ENST00000491481.1:n.121T>C | ||
| NM_001293312.1:c.977T>C | NP_001280241.1:p.Leu326Ser | |
| NM_001349.3:c.1277T>C | NP_001340.2:p.Leu426Ser | |
| NM_001349.4:c.1277T>C MANE Select | NP_001340.2:p.Leu426Ser |