Linked Data
ClinVar Variation Id:
17722
ClinVar RCV Id:
RCV000019295
dbSNP Id:
rs8176058
ExAC:
7:142655008 G / A
gnomAD v2:
7-142655008-G-A
gnomAD v3:
7-142957921-G-A
gnomAD v4:
7-142957921-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957921G>A , CM000669.2:g.142957921G>A | GRCh38 |
| NC_000007.13:g.142655008G>A , CM000669.1:g.142655008G>A | GRCh37 |
| NC_000007.12:g.142365130G>A | NCBI36 |
| NG_007492.1:g.9496C>T | |
| NG_007492.2:g.9496C>T | |
| NG_007492.3:g.9496C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355265.7:c.578C>T MANE Select | ENSP00000347409.2:p.Thr193Met | |
| ENST00000467543.6:c.*430C>T | ENSP00000420011.2:n.*430C>T | |
| ENST00000355265.6:c.578C>T | ENSP00000347409.2:p.Thr193Met | |
| ENST00000467543.5:c.521C>T | ENSP00000420011.1:p.Thr174Met | |
| ENST00000476829.5:c.525+383C>T | ENSP00000419889.1:n.525+383C>T | |
| ENST00000479768.6:n.696C>T | ||
| ENST00000494148.1:n.177C>T | ||
| NM_000420.2:c.578C>T | NP_000411.1:p.Thr193Met | |
| XM_005249993.2:c.614C>T | XP_005250050.1:p.Thr205Met | |
| NM_000420.3:c.578C>T MANE Select | NP_000411.1:p.Thr193Met |