Linked Data
dbSNP Id:
rs200277065
gnomAD v2:
1-94522325-C-A
gnomAD v3:
1-94056769-C-A
gnomAD v4:
1-94056769-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056769C>A , CM000663.2:g.94056769C>A | GRCh38 |
| NC_000001.10:g.94522325C>A , CM000663.1:g.94522325C>A | GRCh37 |
| NC_000001.9:g.94294913C>A | NCBI36 |
| NG_009073.1:g.69381G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2214G>T MANE Select | ENSP00000359245.3:p.Leu738Phe | |
| ENST00000649773.1:c.2161-1454G>T | ENSP00000496882.1:n.2161-1454G>T | |
| ENST00000370225.3:c.2214G>T | ENSP00000359245.3:p.Leu738Phe | |
| ENST00000536513.5:c.-65+6405G>T | ENSP00000439707.2:n.-65+6405G>T | |
| NM_000350.2:c.2214G>T | NP_000341.2:p.Leu738Phe | |
| NM_000350.3:c.2214G>T MANE Select | NP_000341.2:p.Leu738Phe |