Linked Data
ClinVar Variation Id:
2935139
ClinVar RCV Id:
RCV003790793
gnomAD v4:
17-44352179-C-G
MyVariant Identifiers:
chr17:g.42429547C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352179C>G , CM000679.2:g.44352179C>G | GRCh38 |
| NC_000017.10:g.42429547C>G , CM000679.1:g.42429547C>G | GRCh37 |
| NC_000017.9:g.39785073C>G | NCBI36 |
| NG_007886.1:g.12057C>G , LRG_661:g.12057C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1344C>G MANE Select | ENSP00000053867.2:p.Thr448= | |
| ENST00000639447.1:c.1137-350C>G | ENSP00000492014.1:n.1137-350C>G | |
| ENST00000053867.7:c.1344C>G | ENSP00000053867.2:p.Thr448= | |
| ENST00000586443.1:c.785C>G | ||
| ENST00000589265.5:c.873C>G | ENSP00000467616.1:p.Thr291= | |
| NM_002087.3:c.1344C>G | NP_002078.1:p.Thr448= | |
| XM_005257253.1:c.1344C>G | XP_005257310.1:p.Thr448= | |
| XM_024450730.1:c.1344C>G | XP_024306498.1:p.Thr448= | |
| NM_002087.4:c.1344C>G MANE Select | NP_002078.1:p.Thr448= |