Linked Data
ClinVar Variation Id:
323532
dbSNP Id:
rs149180605
ExAC:
17:42427639 C / T
gnomAD v2:
17-42427639-C-T
gnomAD v3:
17-44350271-C-T
gnomAD v4:
17-44350271-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44350271C>T , CM000679.2:g.44350271C>T | GRCh38 |
| NC_000017.10:g.42427639C>T , CM000679.1:g.42427639C>T | GRCh37 |
| NC_000017.9:g.39783165C>T | NCBI36 |
| NG_007886.1:g.10149C>T , LRG_661:g.10149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.393C>T MANE Select | ENSP00000053867.2:p.Phe131= | |
| ENST00000639447.1:c.393C>T | ENSP00000492014.1:p.Phe131= | |
| ENST00000053867.7:c.393C>T | ENSP00000053867.2:p.Phe131= | |
| ENST00000586782.5:c.393C>T | ENSP00000468318.1:p.Phe131= | |
| ENST00000587387.5:c.435C>T | ENSP00000467431.1:p.Phe145= | |
| ENST00000587518.5:c.393C>T | ENSP00000465518.1:p.Phe131= | |
| ENST00000588143.5:c.393C>T | ENSP00000465375.1:p.Phe131= | |
| ENST00000588237.5:c.265-171C>T | ENSP00000466611.1:n.265-171C>T | |
| ENST00000589265.5:c.393C>T | ENSP00000467616.1:p.Phe131= | |
| ENST00000591740.5:c.393C>T | ENSP00000467022.1:p.Phe131= | |
| ENST00000592783.5:c.393C>T | ENSP00000467870.1:p.Phe131= | |
| ENST00000593167.5:c.393C>T | ENSP00000466405.1:p.Phe131= | |
| NM_002087.3:c.393C>T | NP_002078.1:p.Phe131= | |
| XM_005257253.1:c.393C>T | XP_005257310.1:p.Phe131= | |
| XM_024450730.1:c.393C>T | XP_024306498.1:p.Phe131= | |
| NM_002087.4:c.393C>T MANE Select | NP_002078.1:p.Phe131= |