Linked Data
ClinVar Variation Id:
8154
dbSNP Id:
rs104893630
gnomAD v2:
2-74173903-C-T
gnomAD v4:
2-73946776-C-T
PubMed:
PMID:12210798
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73946776C>T , CM000664.2:g.73946776C>T | GRCh38 |
| NC_000002.11:g.74173903C>T , CM000664.1:g.74173903C>T | GRCh37 |
| NC_000002.10:g.74027411C>T | NCBI36 |
| NG_008044.1:g.24951C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264093.9:c.313C>T MANE Select | ENSP00000264093.4:p.Arg105Ter | |
| ENST00000264093.8:c.313C>T | ENSP00000264093.4:p.Arg105Ter | |
| ENST00000348222.3:c.313C>T | ENSP00000306964.3:p.Arg105Ter | |
| ENST00000418996.5:c.200C>T | ENSP00000408209.1:p.Thr67Met | |
| ENST00000462551.1:n.218C>T | ||
| ENST00000462685.1:n.300C>T | ||
| ENST00000489796.5:n.330C>T | ||
| ENST00000493055.1:n.316C>T | ||
| ENST00000629438.2:c.200C>T | ENSP00000487122.1:p.Thr67Met | |
| NM_080916.2:c.313C>T | NP_550438.1:p.Arg105Ter | |
| NM_080918.2:c.313C>T | NP_550440.1:p.Arg105Ter | |
| XM_005264173.2:c.22C>T | XP_005264230.1:p.Arg8Ter | |
| XM_005264174.1:c.22C>T | XP_005264231.1:p.Arg8Ter | |
| XM_011532647.1:c.313C>T | XP_011530949.1:p.Arg105Ter | |
| XM_011532648.1:c.22C>T | XP_011530950.1:p.Arg8Ter | |
| XR_244926.2:n.394C>T | ||
| NM_001318859.1:c.313C>T | NP_001305788.1:p.Arg105Ter | |
| NM_001318860.1:c.22C>T | NP_001305789.1:p.Arg8Ter | |
| NM_001318861.1:c.22C>T | NP_001305790.1:p.Arg8Ter | |
| NM_001318862.1:c.22C>T | NP_001305791.1:p.Arg8Ter | |
| NM_001318863.1:c.22C>T | NP_001305792.1:p.Arg8Ter | |
| NR_134893.1:n.285C>T | ||
| NR_134894.1:n.285C>T | ||
| NR_134895.1:n.228-11370C>T | ||
| NR_134896.1:n.285C>T | ||
| NR_134897.1:n.371C>T | ||
| NR_134898.1:n.285C>T | ||
| XM_011532647.2:c.313C>T | XP_011530949.1:p.Arg105Ter | |
| XM_024452739.1:c.22C>T | XP_024308507.1:p.Arg8Ter | |
| XR_001738656.1:n.397C>T | ||
| XR_244926.3:n.396C>T | ||
| NM_080916.3:c.313C>T MANE Select | NP_550438.1:p.Arg105Ter | |
| NM_001318859.2:c.313C>T | NP_001305788.1:p.Arg105Ter | |
| NM_001318860.2:c.22C>T | NP_001305789.1:p.Arg8Ter | |
| NM_001318861.2:c.22C>T | NP_001305790.1:p.Arg8Ter | |
| NM_001318862.2:c.22C>T | NP_001305791.1:p.Arg8Ter | |
| NM_001318863.2:c.22C>T | NP_001305792.1:p.Arg8Ter | |
| NM_080918.3:c.313C>T | NP_550440.1:p.Arg105Ter | |
| NR_134893.2:n.231C>T | ||
| NR_134894.2:n.231C>T | ||
| NR_134895.2:n.174-11370C>T | ||
| NR_134896.2:n.231C>T | ||
| NR_134897.2:n.317C>T | ||
| NR_134898.2:n.231C>T |