Linked Data
ClinVar Variation Id:
784356
ClinVar RCV Id:
RCV000966028
dbSNP Id:
rs149217449
ExAC:
17:39739542 G / T
gnomAD v2:
17-39739542-G-T
gnomAD v3:
17-41583290-G-T
gnomAD v4:
17-41583290-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583290G>T , CM000679.2:g.41583290G>T | GRCh38 |
| NC_000017.10:g.39739542G>T , CM000679.1:g.39739542G>T | GRCh37 |
| NC_000017.9:g.36993068G>T | NCBI36 |
| NG_008624.1:g.8606C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1219C>A MANE Select | ENSP00000167586.6:p.Arg407= | |
| ENST00000167586.6:c.1219C>A | ENSP00000167586.6:p.Arg407= | |
| ENST00000441550.2:n.166C>A | ||
| ENST00000476662.1:n.669C>A | ||
| NM_000526.4:c.1219C>A | NP_000517.2:p.Arg407= | |
| NM_000526.5:c.1219C>A MANE Select | NP_000517.3:p.Arg407= |