Linked Data
ClinVar Variation Id:
2436043
ClinVar RCV Id:
RCV003136793
dbSNP Id:
rs75731670
ExAC:
17:42331949 C / G
gnomAD v2:
17-42331949-C-G
gnomAD v4:
17-44254581-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44254581C>G , CM000679.2:g.44254581C>G | GRCh38 |
| NC_000017.10:g.42331949C>G , CM000679.1:g.42331949C>G | GRCh37 |
| NC_000017.9:g.39687475C>G | NCBI36 |
| NG_007498.1:g.18554G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1972G>C MANE Select | ENSP00000262418.6:p.Glu658Gln | |
| ENST00000262418.10:c.1972G>C | ENSP00000262418.6:p.Glu658Gln | |
| ENST00000399246.3:c.874G>C | ENSP00000382190.3:p.Glu292Gln | |
| NM_000342.3:c.1972G>C | NP_000333.1:p.Glu658Gln | |
| XM_005257593.3:c.1777G>C | XP_005257650.1:p.Glu593Gln | |
| XM_011525129.1:c.1882G>C | XP_011523431.1:p.Glu628Gln | |
| XM_011525130.1:c.1972G>C | XP_011523432.1:p.Glu658Gln | |
| XM_011525131.1:c.1972G>C | XP_011523433.1:p.Glu658Gln | |
| XM_005257593.5:c.1777G>C | XP_005257650.1:p.Glu593Gln | |
| XM_011525129.2:c.1882G>C | XP_011523431.1:p.Glu628Gln | |
| NM_000342.4:c.1972G>C MANE Select | NP_000333.1:p.Glu658Gln |