Linked Data
dbSNP Id:
rs779198403
ExAC:
11:64525806 G / A
gnomAD v2:
11-64525806-G-A
gnomAD v4:
11-64758334-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758334G>A , CM000673.2:g.64758334G>A | GRCh38 |
| NC_000011.9:g.64525806G>A , CM000673.1:g.64525806G>A | GRCh37 |
| NC_000011.8:g.64282382G>A | NCBI36 |
| NG_013018.1:g.7382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.440C>T MANE Select | ENSP00000164139.3:p.Ser147Phe | |
| ENST00000164139.3:c.440C>T | ENSP00000164139.3:p.Ser147Phe | |
| ENST00000377432.7:c.244-68C>T | ENSP00000366650.3:n.244-68C>T | |
| NM_001164716.1:c.244-68C>T | NP_001158188.1:n.244-68C>T | |
| NM_005609.2:c.440C>T | NP_005600.1:p.Ser147Phe | |
| NM_005609.3:c.440C>T | NP_005600.1:p.Ser147Phe | |
| NM_005609.4:c.440C>T MANE Select | NP_005600.1:p.Ser147Phe |