Linked Data
ClinVar Variation Id:
2579426
ClinVar RCV Id:
RCV003327861
dbSNP Id:
rs1457819438
gnomAD v2:
17-45360813-G-C
gnomAD v3:
17-47283447-G-C
gnomAD v4:
17-47283447-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283447G>C , CM000679.2:g.47283447G>C | GRCh38 |
| NC_000017.10:g.45360813G>C , CM000679.1:g.45360813G>C | GRCh37 |
| NC_000017.9:g.42715812G>C | NCBI36 |
| NG_008332.2:g.34606G>C , LRG_481:g.34606G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.259G>C | ENSP00000513002.1:p.Ala87Pro | |
| ENST00000559488.7:c.259G>C MANE Select | ENSP00000452786.2:p.Ala87Pro | |
| ENST00000559488.5:c.259G>C | ENSP00000452786.1:p.Ala87Pro | |
| ENST00000560629.1:c.224G>C | ||
| ENST00000571680.1:c.259G>C | ENSP00000461626.1:p.Ala87Pro | |
| NM_000212.2:c.259G>C , LRG_481t1:c.259G>C | NP_000203.2:p.Ala87Pro | |
| NM_000212.3:c.259G>C MANE Select | NP_000203.2:p.Ala87Pro |