Linked Data
ClinVar Variation Id:
1506248
ClinVar RCV Id:
RCV002006588
dbSNP Id:
rs376515152
ExAC:
17:12896149 C / A
gnomAD v2:
17-12896149-C-A
gnomAD v3:
17-12992832-C-A
gnomAD v4:
17-12992832-C-A
MyVariant Identifiers:
chr17:g.12896149C>A (hg19)
chr17:g.12896149_12896152delinsACTT (hg19)
chr17:g.12992832C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992832C>A , CM000679.2:g.12992832C>A | GRCh38 |
| NC_000017.10:g.12896149C>A , CM000679.1:g.12896149C>A | GRCh37 |
| NC_000017.9:g.12836874C>A | NCBI36 |
| NG_015808.1:g.30233G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2467G>T MANE Select | ENSP00000337445.4:p.Val823Phe | |
| ENST00000338034.8:c.2467G>T | ENSP00000337445.4:p.Val823Phe | |
| ENST00000395962.6:c.2410G>T | ENSP00000379291.1:p.Val804Phe | |
| ENST00000426905.7:c.2347G>T | ENSP00000405223.3:p.Val783Phe | |
| ENST00000465825.5:n.2354G>T | ||
| ENST00000480891.5:n.2296G>T | ||
| ENST00000484122.5:n.3297G>T | ||
| ENST00000487229.6:n.2013G>T | ||
| ENST00000584650.5:c.1866G>T | ||
| NM_001165962.1:c.2347G>T | NP_001159434.1:p.Val783Phe | |
| NM_018127.6:c.2467G>T | NP_060597.4:p.Val823Phe | |
| NM_173717.1:c.2464G>T | NP_776065.1:p.Val822Phe | |
| XM_024450850.1:c.2626G>T | XP_024306618.1:p.Val876Phe | |
| XM_024450851.1:c.2548G>T | XP_024306619.1:p.Val850Phe | |
| XM_024450852.1:c.2545G>T | XP_024306620.1:p.Val849Phe | |
| XM_024450853.1:c.2542G>T | XP_024306621.1:p.Val848Phe | |
| XM_024450854.1:c.2506G>T | XP_024306622.1:p.Val836Phe | |
| XM_024450855.1:c.2425G>T | XP_024306623.1:p.Val809Phe | |
| XM_024450856.1:c.2344G>T | XP_024306624.1:p.Val782Phe | |
| XM_024450857.1:c.2344G>T | XP_024306625.1:p.Val782Phe | |
| XM_024450858.1:c.2263G>T | XP_024306626.1:p.Val755Phe | |
| XM_024450859.1:c.2260G>T | XP_024306627.1:p.Val754Phe | |
| XM_024450860.1:c.2185G>T | XP_024306628.1:p.Val729Phe | |
| XM_024450861.1:c.2185G>T | XP_024306629.1:p.Val729Phe | |
| XM_024450862.1:c.2182G>T | XP_024306630.1:p.Val728Phe | |
| NM_018127.7:c.2467G>T MANE Select | NP_060597.4:p.Val823Phe | |
| NM_001165962.2:c.2347G>T | NP_001159434.1:p.Val783Phe | |
| NM_173717.2:c.2464G>T | NP_776065.1:p.Val822Phe |