Linked Data
ClinVar Variation Id:
219741
ClinVar RCV Id:
RCV000203817
RCV001153404
RCV001153403
RCV002381703
RCV004530221
RCV000235858
RCV000789697
RCV001722118
dbSNP Id:
rs146162276
ExAC:
5:148431719 T / G
gnomAD v2:
5-148431719-T-G
gnomAD v3:
5-149052156-T-G
gnomAD v4:
5-149052156-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149052156T>G , CM000667.2:g.149052156T>G | GRCh38 |
| NC_000005.9:g.148431719T>G , CM000667.1:g.148431719T>G | GRCh37 |
| NC_000005.8:g.148411912T>G | NCBI36 |
| NG_007947.2:g.16019A>C , LRG_269:g.16019A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.85A>C | ||
| ENST00000515425.6:c.137A>C MANE Select | ENSP00000423660.1:p.Gln46Pro | |
| ENST00000674983.1:c.137A>C | ENSP00000502387.1:p.Gln46Pro | |
| ENST00000675793.1:c.137A>C | ENSP00000502039.1:p.Gln46Pro | |
| ENST00000676056.1:c.137A>C | ENSP00000501827.1:p.Gln46Pro | |
| ENST00000323829.9:c.137A>C | ENSP00000313025.5:p.Gln46Pro | |
| ENST00000504091.1:n.173A>C | ||
| ENST00000504690.5:c.137A>C | ENSP00000425627.1:p.Gln46Pro | |
| ENST00000511307.5:c.137A>C | ENSP00000421420.1:p.Gln46Pro | |
| ENST00000511949.5:n.177A>C | ||
| ENST00000512049.5:c.137A>C | ENSP00000421860.1:p.Gln46Pro | |
| ENST00000513604.5:c.137A>C | ENSP00000423111.1:p.Gln46Pro | |
| ENST00000515425.5:c.137A>C | ENSP00000423660.1:p.Gln46Pro | |
| NM_024577.3:c.137A>C , LRG_269t1:c.137A>C | NP_078853.2:p.Gln46Pro | |
| NM_024577.4:c.137A>C MANE Select | NP_078853.2:p.Gln46Pro |