Linked Data
ClinVar Variation Id:
3136364
ClinVar RCV Id:
RCV004432229
dbSNP Id:
rs750481872
ExAC:
17:61555457 C / G
gnomAD v2:
17-61555457-C-G
gnomAD v3:
17-63478096-C-G
gnomAD v4:
17-63478096-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63478096C>G , CM000679.2:g.63478096C>G | GRCh38 |
| NC_000017.10:g.61555457C>G , CM000679.1:g.61555457C>G | GRCh37 |
| NC_000017.9:g.58909189C>G | NCBI36 |
| NG_011648.1:g.6024C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.415C>G MANE Select | ENSP00000290866.4:p.Gln139Glu | |
| ENST00000290866.9:c.415C>G | ENSP00000290866.4:p.Gln139Glu | |
| ENST00000428043.5:c.415C>G | ENSP00000397593.2:p.Gln139Glu | |
| ENST00000579462.1:n.440C>G | ||
| ENST00000580318.1:n.604C>G | ||
| ENST00000582627.1:c.415C>G | ENSP00000462280.1:p.Gln139Glu | |
| ENST00000582678.5:c.415C>G | ENSP00000462995.1:p.Gln139Glu | |
| ENST00000583336.5:n.449C>G | ||
| ENST00000584529.5:n.449C>G | ||
| NM_000789.3:c.415C>G | NP_000780.1:p.Gln139Glu | |
| XM_005257110.1:c.-41C>G | XP_005257167.1:n.-41C>G | |
| NM_000789.4:c.415C>G MANE Select | NP_000780.1:p.Gln139Glu | |
| NM_001382700.1:c.180C>G | NP_001369629.1:p.Ser60Arg | |
| NM_001382701.1:c.-200C>G | NP_001369630.1:n.-200C>G |