Linked Data
ClinVar Variation Id:
913601
ClinVar RCV Id:
RCV001167308
dbSNP Id:
rs1831207922
gnomAD v3:
9-101430794-C-G
gnomAD v4:
9-101430794-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101430794C>G , CM000671.2:g.101430794C>G | GRCh38 |
| NC_000009.11:g.104193076C>G , CM000671.1:g.104193076C>G | GRCh37 |
| NC_000009.10:g.103232897C>G | NCBI36 |
| NG_012387.1:g.9987G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.94G>C MANE Select | ENSP00000497767.1:p.Ala32Pro | |
| ENST00000648064.1:c.94G>C | ENSP00000497990.1:p.Ala32Pro | |
| ENST00000648423.1:c.94G>C | ENSP00000497985.1:p.Ala32Pro | |
| ENST00000648758.1:c.94G>C | ENSP00000497731.1:p.Ala32Pro | |
| ENST00000648906.1:n.264G>C | ||
| ENST00000649902.1:c.94G>C | ENSP00000497216.1:p.Ala32Pro | |
| ENST00000650613.1:n.170G>C | ||
| ENST00000374855.8:c.94G>C | ENSP00000363988.4:p.Ala32Pro | |
| ENST00000616752.1:c.94G>C | ENSP00000481363.1:p.Ala32Pro | |
| NM_000035.3:c.94G>C | NP_000026.2:p.Ala32Pro | |
| NM_000035.4:c.94G>C MANE Select | NP_000026.2:p.Ala32Pro |