Linked Data
ClinVar Variation Id:
530429
dbSNP Id:
rs936639741
gnomAD v2:
11-793551-G-A
gnomAD v4:
11-793551-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.793551G>A , CM000673.2:g.793551G>A | GRCh38 |
| NC_000011.9:g.793551G>A , CM000673.1:g.793551G>A | GRCh37 |
| NC_000011.8:g.783551G>A | NCBI36 |
| NG_023407.1:g.9719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628067.3:c.271C>T MANE Select | ENSP00000486058.1:p.Arg91Ter | |
| ENST00000320230.9:c.271C>T | ENSP00000322020.5:p.Arg91Ter | |
| ENST00000456706.6:c.271C>T | ENSP00000392749.3:p.Arg91Ter | |
| ENST00000481290.5:c.346C>T | ENSP00000431829.2:p.Arg116Ter | |
| ENST00000524891.5:n.487C>T | ||
| ENST00000526152.5:c.271C>T | ENSP00000436745.1:p.Arg91Ter | |
| ENST00000527723.5:c.271C>T | ENSP00000434479.2:p.Arg91Ter | |
| ENST00000527734.5:c.*57C>T | ENSP00000433655.1:n.*57C>T | |
| ENST00000528606.5:c.271C>T | ENSP00000437045.2:p.Arg91Ter | |
| ENST00000528936.5:c.271C>T | ENSP00000432817.2:p.Arg91Ter | |
| ENST00000529351.5:c.*57C>T | ENSP00000432222.1:n.*57C>T | |
| ENST00000531214.5:c.271C>T | ENSP00000437236.1:p.Arg91Ter | |
| ENST00000531437.5:c.259C>T | ENSP00000435862.1:p.Arg87Ter | |
| ENST00000531514.5:c.*57C>T | ENSP00000433780.2:n.*57C>T | |
| ENST00000531534.5:c.271C>T | ENSP00000435402.2:p.Arg91Ter | |
| ENST00000532484.5:c.271C>T | ENSP00000431466.2:p.Arg91Ter | |
| ENST00000533385.5:c.271C>T | ENSP00000434287.2:p.Arg91Ter | |
| ENST00000625419.2:c.271C>T | ENSP00000485719.1:p.Arg91Ter | |
| ENST00000625752.2:c.271C>T | ENSP00000487237.1:p.Arg91Ter | |
| ENST00000627843.2:c.271C>T | ENSP00000486512.1:p.Arg91Ter | |
| ENST00000628067.2:c.271C>T | ENSP00000486058.1:p.Arg91Ter | |
| ENST00000629634.2:c.271C>T | ENSP00000486434.1:p.Arg91Ter | |
| ENST00000630809.2:n.139C>T | ||
| NM_001191060.1:c.271C>T | NP_001177989.1:p.Arg91Ter | |
| NM_001191061.1:c.271C>T | NP_001177990.1:p.Arg91Ter | |
| NM_024698.5:c.271C>T | NP_078974.1:p.Arg91Ter | |
| XM_011520369.1:c.271C>T | XP_011518671.1:p.Arg91Ter | |
| XM_011520370.1:c.271C>T | XP_011518672.1:p.Arg91Ter | |
| XM_011520371.1:c.271C>T | XP_011518673.1:p.Arg91Ter | |
| XM_011520370.2:c.271C>T | XP_011518672.1:p.Arg91Ter | |
| XM_011520371.2:c.271C>T | XP_011518673.1:p.Arg91Ter | |
| XM_024448687.1:c.271C>T | XP_024304455.1:p.Arg91Ter | |
| XM_024448688.1:c.271C>T | XP_024304456.1:p.Arg91Ter | |
| XM_024448689.1:c.271C>T | XP_024304457.1:p.Arg91Ter | |
| NM_001191061.2:c.271C>T MANE Select | NP_001177990.1:p.Arg91Ter | |
| NM_024698.6:c.271C>T | NP_078974.1:p.Arg91Ter | |
| NM_001191060.2:c.271C>T | NP_001177989.1:p.Arg91Ter |