Linked Data
dbSNP Id:
rs749798911
ExAC:
17:70119717 C / G
gnomAD v2:
17-70119717-C-G
gnomAD v4:
17-72123576-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123576C>G , CM000679.2:g.72123576C>G | GRCh38 |
| NC_000017.10:g.70119717C>G , CM000679.1:g.70119717C>G | GRCh37 |
| NC_000017.9:g.67631312C>G | NCBI36 |
| NG_012490.1:g.7557C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.719C>G MANE Select | ENSP00000245479.2:p.Thr240Ser | |
| ENST00000245479.2:c.719C>G | ENSP00000245479.2:p.Thr240Ser | |
| NM_000346.3:c.719C>G | NP_000337.1:p.Thr240Ser | |
| NM_000346.4:c.719C>G MANE Select | NP_000337.1:p.Thr240Ser |