Linked Data
ClinVar Variation Id:
1765256
ClinVar RCV Id:
RCV002376228
dbSNP Id:
rs1367811482
gnomAD v2:
19-45412448-G-C
gnomAD v4:
19-44909191-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44909191G>C , CM000681.2:g.44909191G>C | GRCh38 |
| NC_000019.9:g.45412448G>C , CM000681.1:g.45412448G>C | GRCh37 |
| NC_000019.8:g.50104288G>C | NCBI36 |
| NG_007084.2:g.8410G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.895G>C MANE Select | ENSP00000252486.3:p.Glu299Gln | |
| ENST00000252486.8:c.895G>C | ENSP00000252486.3:p.Glu299Gln | |
| NM_000041.3:c.895G>C | NP_000032.1:p.Glu299Gln | |
| NM_001302688.1:c.973G>C | NP_001289617.1:p.Glu325Gln | |
| NM_001302689.1:c.895G>C | NP_001289618.1:p.Glu299Gln | |
| NM_001302690.1:c.895G>C | NP_001289619.1:p.Glu299Gln | |
| NM_001302691.1:c.895G>C | NP_001289620.1:p.Glu299Gln | |
| NM_000041.4:c.895G>C MANE Select | NP_000032.1:p.Glu299Gln | |
| NM_001302688.2:c.973G>C | NP_001289617.1:p.Glu325Gln | |
| NM_001302689.2:c.895G>C | NP_001289618.1:p.Glu299Gln | |
| NM_001302691.2:c.895G>C | NP_001289620.1:p.Glu299Gln | |
| NM_001302690.2:c.895G>C | NP_001289619.1:p.Glu299Gln |