Linked Data
ClinVar Variation Id:
324913
ClinVar RCV Id:
RCV002524436
dbSNP Id:
rs370713128
ExAC:
17:70119715 C / T
gnomAD v2:
17-70119715-C-T
gnomAD v3:
17-72123574-C-T
gnomAD v4:
17-72123574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123574C>T , CM000679.2:g.72123574C>T | GRCh38 |
| NC_000017.10:g.70119715C>T , CM000679.1:g.70119715C>T | GRCh37 |
| NC_000017.9:g.67631310C>T | NCBI36 |
| NG_012490.1:g.7555C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.717C>T MANE Select | ENSP00000245479.2:p.Thr239= | |
| ENST00000245479.2:c.717C>T | ENSP00000245479.2:p.Thr239= | |
| NM_000346.3:c.717C>T | NP_000337.1:p.Thr239= | |
| NM_000346.4:c.717C>T MANE Select | NP_000337.1:p.Thr239= |