Linked Data
ClinVar Variation Id:
324830
ClinVar RCV Id:
RCV000308982
RCV000347359
RCV000406881
RCV000489623
RCV000795350
RCV001788198
RCV002348069
RCV002487428
dbSNP Id:
rs766143485
ExAC:
17:68171299 G / A
gnomAD v2:
17-68171299-G-A
gnomAD v3:
17-70175158-G-A
gnomAD v4:
17-70175158-G-A
MyVariant Identifiers:
chr17:g.68171299G>A (hg19)
chr17:g.68171299_68171302delinsAACA (hg19)
chr17:g.70175158G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175158G>A , CM000679.2:g.70175158G>A | GRCh38 |
| NC_000017.10:g.68171299G>A , CM000679.1:g.68171299G>A | GRCh37 |
| NC_000017.9:g.65682894G>A | NCBI36 |
| NG_008798.1:g.10624G>A , LRG_328:g.10624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.119G>A MANE Select | ENSP00000243457.2:p.Arg40Gln | |
| ENST00000243457.3:c.119G>A | ENSP00000243457.2:p.Arg40Gln | |
| ENST00000535240.1:c.119G>A | ENSP00000441848.1:p.Arg40Gln | |
| NM_000891.2:c.119G>A , LRG_328t1:c.119G>A | NP_000882.1:p.Arg40Gln | |
| XM_011524779.1:c.119G>A | XP_011523081.1:p.Arg40Gln | |
| NM_000891.3:c.119G>A MANE Select | NP_000882.1:p.Arg40Gln |