Linked Data
ClinVar Variation Id:
8146
dbSNP Id:
rs121909305
ExAC:
12:57441459 G / A
gnomAD v2:
12-57441459-G-A
gnomAD v3:
12-57047675-G-A
gnomAD v4:
12-57047675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57047675G>A , CM000674.2:g.57047675G>A | GRCh38 |
| NC_000012.11:g.57441459G>A , CM000674.1:g.57441459G>A | GRCh37 |
| NC_000012.10:g.55727726G>A | NCBI36 |
| NG_012104.1:g.7435C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300119.8:c.277C>T MANE Select | ENSP00000300119.3:p.Arg93Ter | |
| ENST00000300119.7:c.277C>T | ENSP00000300119.3:p.Arg93Ter | |
| ENST00000433964.5:c.277C>T | ENSP00000400991.1:p.Arg93Ter | |
| ENST00000442789.6:c.277C>T | ENSP00000393392.2:p.Arg93Ter | |
| ENST00000492945.5:c.-21+2212C>T | ENSP00000452229.1:n.-21+2212C>T | |
| ENST00000554234.5:c.-163C>T | ENSP00000451033.1:n.-163C>T | |
| NM_001256041.1:c.277C>T | NP_001242970.1:p.Arg93Ter | |
| NM_005379.3:c.277C>T | NP_005370.1:p.Arg93Ter | |
| XM_011538373.1:c.277C>T | XP_011536675.1:p.Arg93Ter | |
| XM_011538373.2:c.277C>T | XP_011536675.1:p.Arg93Ter | |
| NM_005379.4:c.277C>T MANE Select | NP_005370.1:p.Arg93Ter | |
| NM_001256041.2:c.277C>T | NP_001242970.1:p.Arg93Ter |