Linked Data
dbSNP Id:
rs766928241
ExAC:
17:6683795 A / G
gnomAD v2:
17-6683795-A-G
gnomAD v4:
17-6780476-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780476A>G , CM000679.2:g.6780476A>G | GRCh38 |
| NC_000017.10:g.6683795A>G , CM000679.1:g.6683795A>G | GRCh37 |
| NC_000017.9:g.6624519A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.608A>G MANE Select | ENSP00000321386.4:p.Tyr203Cys | |
| ENST00000321535.4:c.608A>G | ENSP00000321386.4:p.Tyr203Cys | |
| NM_153230.2:c.608A>G | NP_694962.1:p.Tyr203Cys | |
| XM_011523697.1:c.608A>G | XP_011521999.1:p.Tyr203Cys | |
| XR_243544.3:n.786A>G | ||
| NM_153230.3:c.608A>G MANE Select | NP_694962.1:p.Tyr203Cys |