Linked Data
ClinVar Variation Id:
287313
dbSNP Id:
rs138596741
ExAC:
2:219679423 C / T
gnomAD v2:
2-219679423-C-T
gnomAD v3:
2-218814700-C-T
gnomAD v4:
2-218814700-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814700C>T , CM000664.2:g.218814700C>T | GRCh38 |
| NC_000002.11:g.219679423C>T , CM000664.1:g.219679423C>T | GRCh37 |
| NC_000002.10:g.219387667C>T | NCBI36 |
| NG_007959.1:g.37952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1419C>T MANE Select | ENSP00000258415.4:p.Val473= | |
| ENST00000258415.8:c.1419C>T | ENSP00000258415.4:p.Val473= | |
| ENST00000494263.5:n.2131C>T | ||
| NM_000784.3:c.1419C>T | NP_000775.1:p.Val473= | |
| XM_017003488.2:c.999C>T | XP_016858977.1:p.Val333= | |
| NM_000784.4:c.1419C>T MANE Select | NP_000775.1:p.Val473= |