Linked Data
ClinVar Variation Id:
242800
dbSNP Id:
rs75134564
ExAC:
5:41862758 G / A
gnomAD v2:
5-41862758-G-A
gnomAD v3:
5-41862656-G-A
gnomAD v4:
5-41862656-G-A
COSMIC:
COSM1739126
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41862656G>A , CM000667.2:g.41862656G>A | GRCh38 |
| NC_000005.9:g.41862758G>A , CM000667.1:g.41862758G>A | GRCh37 |
| NC_000005.8:g.41898515G>A | NCBI36 |
| NG_011823.1:g.13034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196371.10:c.173C>T MANE Select | ENSP00000196371.5:p.Thr58Met | |
| ENST00000196371.9:c.173C>T | ENSP00000196371.5:p.Thr58Met | |
| NM_000436.3:c.173C>T | NP_000427.1:p.Thr58Met | |
| XR_427658.2:n.349C>T | ||
| NM_001364299.1:c.173C>T | NP_001351228.1:p.Thr58Met | |
| NM_001364300.1:c.194C>T | NP_001351229.1:p.Thr65Met | |
| NM_001364301.1:c.173C>T | NP_001351230.1:p.Thr58Met | |
| NM_001364302.1:c.173C>T | NP_001351231.1:p.Thr58Met | |
| NR_157114.1:n.240C>T | ||
| XR_001742081.2:n.350C>T | ||
| NM_000436.4:c.173C>T MANE Select | NP_000427.1:p.Thr58Met | |
| NM_001364299.2:c.173C>T | NP_001351228.1:p.Thr58Met | |
| NM_001364300.2:c.194C>T | NP_001351229.1:p.Thr65Met | |
| NM_001364301.2:c.173C>T | NP_001351230.1:p.Thr58Met | |
| NM_001364302.2:c.173C>T | NP_001351231.1:p.Thr58Met | |
| NR_157114.2:n.240C>T |