Linked Data
dbSNP Id:
rs1315864445
gnomAD v2:
5-33951673-G-A
gnomAD v3:
5-33951568-G-A
gnomAD v4:
5-33951568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33951568G>A , CM000667.2:g.33951568G>A | GRCh38 |
| NC_000005.9:g.33951673G>A , CM000667.1:g.33951673G>A | GRCh37 |
| NC_000005.8:g.33987430G>A | NCBI36 |
| NG_011691.2:g.38108C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1142C>T MANE Select | ENSP00000296589.4:p.Ser381Phe | |
| ENST00000296589.8:c.1142C>T | ENSP00000296589.4:p.Ser381Phe | |
| ENST00000382102.7:c.1142C>T | ENSP00000371534.3:p.Ser381Phe | |
| ENST00000509381.1:c.*84C>T | ENSP00000421100.1:n.*84C>T | |
| ENST00000510600.1:c.617C>T | ENSP00000424010.1:p.Ser206Phe | |
| NM_001012509.3:c.1142C>T | NP_001012527.1:p.Ser381Phe | |
| NM_001297417.2:c.*84C>T | NP_001284346.2:n.*84C>T | |
| NM_016180.4:c.1142C>T | NP_057264.3:p.Ser381Phe | |
| XM_011514051.1:c.740C>T | XP_011512353.1:p.Ser247Phe | |
| XR_925620.1:n.1959C>T | ||
| NM_016180.5:c.1142C>T MANE Select | NP_057264.4:p.Ser381Phe | |
| NM_001012509.4:c.1142C>T | NP_001012527.2:p.Ser381Phe | |
| NM_001297417.3:c.*84C>T | NP_001284346.2:n.*84C>T | |
| NM_001297417.4:c.*84C>T | NP_001284346.2:n.*84C>T |