Linked Data
dbSNP Id:
rs201485133
ExAC:
15:75047173 T / C
gnomAD v2:
15-75047173-T-C
gnomAD v3:
15-74754832-T-C
gnomAD v4:
15-74754832-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74754832T>C , CM000677.2:g.74754832T>C | GRCh38 |
| NC_000015.9:g.75047173T>C , CM000677.1:g.75047173T>C | GRCh37 |
| NC_000015.8:g.72834226T>C | NCBI36 |
| NG_008431.1:g.37291T>C | |
| NG_008431.2:g.37291T>C | |
| NG_061543.1:g.10988T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1295T>C MANE Select | ENSP00000342007.4:p.Phe432Ser | |
| ENST00000343932.4:c.1295T>C | ENSP00000342007.4:p.Phe432Ser | |
| NM_000761.4:c.1295T>C | NP_000752.2:p.Phe432Ser | |
| NM_000761.5:c.1295T>C MANE Select | NP_000752.2:p.Phe432Ser |