Linked Data
ClinVar Variation Id:
499139
dbSNP Id:
rs749575769
ExAC:
17:70120210 C / T
gnomAD v2:
17-70120210-C-T
gnomAD v3:
17-72124069-C-T
gnomAD v4:
17-72124069-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124069C>T , CM000679.2:g.72124069C>T | GRCh38 |
| NC_000017.10:g.70120210C>T , CM000679.1:g.70120210C>T | GRCh37 |
| NC_000017.9:g.67631805C>T | NCBI36 |
| NG_012490.1:g.8050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1212C>T MANE Select | ENSP00000245479.2:p.Pro404= | |
| ENST00000245479.2:c.1212C>T | ENSP00000245479.2:p.Pro404= | |
| NM_000346.3:c.1212C>T | NP_000337.1:p.Pro404= | |
| NM_000346.4:c.1212C>T MANE Select | NP_000337.1:p.Pro404= |