Linked Data
ClinVar Variation Id:
323537
dbSNP Id:
rs149658268
ExAC:
17:42429936 C / T
gnomAD v2:
17-42429936-C-T
gnomAD v3:
17-44352568-C-T
gnomAD v4:
17-44352568-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352568C>T , CM000679.2:g.44352568C>T | GRCh38 |
| NC_000017.10:g.42429936C>T , CM000679.1:g.42429936C>T | GRCh37 |
| NC_000017.9:g.39785462C>T | NCBI36 |
| NG_007886.1:g.12446C>T , LRG_661:g.12446C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1641C>T MANE Select | ENSP00000053867.2:p.Arg547= | |
| ENST00000639447.1:c.1176C>T | ENSP00000492014.1:p.Arg392= | |
| ENST00000053867.7:c.1641C>T | ENSP00000053867.2:p.Arg547= | |
| ENST00000586242.1:c.275C>T | ||
| ENST00000586443.1:c.1082C>T | ||
| ENST00000589265.5:c.1170C>T | ENSP00000467616.1:p.Arg390= | |
| NM_002087.3:c.1641C>T | NP_002078.1:p.Arg547= | |
| XM_005257253.1:c.1641C>T | XP_005257310.1:p.Arg547= | |
| XM_024450730.1:c.1641C>T | XP_024306498.1:p.Arg547= | |
| NM_002087.4:c.1641C>T MANE Select | NP_002078.1:p.Arg547= |