Linked Data
dbSNP Id:
rs778378498
ExAC:
17:54672119 T / C
gnomAD v2:
17-54672119-T-C
gnomAD v4:
17-56594758-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594758T>C , CM000679.2:g.56594758T>C | GRCh38 |
| NC_000017.10:g.54672119T>C , CM000679.1:g.54672119T>C | GRCh37 |
| NC_000017.9:g.52027118T>C | NCBI36 |
| NG_011958.1:g.6060T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.535T>C MANE Select | ENSP00000328181.4:p.Phe179Leu | |
| ENST00000332822.4:c.535T>C | ENSP00000328181.4:p.Phe179Leu | |
| NM_005450.4:c.535T>C | NP_005441.1:p.Phe179Leu | |
| NM_005450.6:c.535T>C MANE Select | NP_005441.1:p.Phe179Leu |