Linked Data
ClinVar Variation Id:
2083348
ClinVar RCV Id:
RCV003009095
dbSNP Id:
rs780844774
ExAC:
17:42429577 G / A
gnomAD v2:
17-42429577-G-A
gnomAD v3:
17-44352209-G-A
gnomAD v4:
17-44352209-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352209G>A , CM000679.2:g.44352209G>A | GRCh38 |
| NC_000017.10:g.42429577G>A , CM000679.1:g.42429577G>A | GRCh37 |
| NC_000017.9:g.39785103G>A | NCBI36 |
| NG_007886.1:g.12087G>A , LRG_661:g.12087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1374G>A MANE Select | ENSP00000053867.2:p.Pro458= | |
| ENST00000639447.1:c.1137-320G>A | ENSP00000492014.1:n.1137-320G>A | |
| ENST00000053867.7:c.1374G>A | ENSP00000053867.2:p.Pro458= | |
| ENST00000586242.1:c.8G>A | ||
| ENST00000586443.1:c.815G>A | ||
| ENST00000589265.5:c.903G>A | ENSP00000467616.1:p.Pro301= | |
| NM_002087.3:c.1374G>A | NP_002078.1:p.Pro458= | |
| XM_005257253.1:c.1374G>A | XP_005257310.1:p.Pro458= | |
| XM_024450730.1:c.1374G>A | XP_024306498.1:p.Pro458= | |
| NM_002087.4:c.1374G>A MANE Select | NP_002078.1:p.Pro458= |