Linked Data
ClinVar Variation Id:
431921
dbSNP Id:
rs538329212
gnomAD v2:
10-74311075-G-A
gnomAD v3:
10-72551317-G-A
gnomAD v4:
10-72551317-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72551317G>A , CM000672.2:g.72551317G>A | GRCh38 |
| NC_000010.10:g.74311075G>A , CM000672.1:g.74311075G>A | GRCh37 |
| NC_000010.9:g.73981081G>A | NCBI36 |
| NG_033179.1:g.79875C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361114.10:c.355C>T MANE Select | ENSP00000354415.5:p.Arg119Ter | |
| ENST00000642044.1:c.355C>T | ENSP00000493232.1:p.Arg119Ter | |
| ENST00000361114.9:c.355C>T | ENSP00000354415.5:p.Arg119Ter | |
| ENST00000398761.8:c.355C>T | ENSP00000381745.5:p.Arg119Ter | |
| ENST00000603011.5:c.253C>T | ENSP00000474192.1:p.Arg85Ter | |
| ENST00000604238.2:c.355C>T | ENSP00000474775.2:p.Arg119Ter | |
| ENST00000635239.1:c.355C>T | ENSP00000489563.1:p.Arg119Ter | |
| NM_001195518.1:c.355C>T | NP_001182447.1:p.Arg119Ter | |
| NM_006077.3:c.355C>T | NP_006068.2:p.Arg119Ter | |
| XM_005269383.1:c.355C>T | XP_005269440.1:p.Arg119Ter | |
| XM_005269384.1:c.355C>T | XP_005269441.1:p.Arg119Ter | |
| XM_011539119.1:c.355C>T | XP_011537421.1:p.Arg119Ter | |
| XR_945585.1:n.442C>T | ||
| XR_945586.1:n.442C>T | ||
| NM_001363513.1:c.355C>T | NP_001350442.1:p.Arg119Ter | |
| XR_001746993.2:n.443C>T | ||
| XR_001746994.2:n.443C>T | ||
| XR_945586.2:n.443C>T | ||
| NM_001195518.2:c.355C>T MANE Select | NP_001182447.1:p.Arg119Ter | |
| NM_001363513.2:c.355C>T | NP_001350442.1:p.Arg119Ter | |
| NM_006077.4:c.355C>T | NP_006068.2:p.Arg119Ter |