Linked Data
dbSNP Id:
rs765623058
ExAC:
17:54672168 C / A
gnomAD v2:
17-54672168-C-A
gnomAD v4:
17-56594807-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594807C>A , CM000679.2:g.56594807C>A | GRCh38 |
| NC_000017.10:g.54672168C>A , CM000679.1:g.54672168C>A | GRCh37 |
| NC_000017.9:g.52027167C>A | NCBI36 |
| NG_011958.1:g.6109C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.584C>A MANE Select | ENSP00000328181.4:p.Ser195Tyr | |
| ENST00000332822.4:c.584C>A | ENSP00000328181.4:p.Ser195Tyr | |
| NM_005450.4:c.584C>A | NP_005441.1:p.Ser195Tyr | |
| NM_005450.6:c.584C>A MANE Select | NP_005441.1:p.Ser195Tyr |