Linked Data
ClinVar Variation Id:
1315761
ClinVar RCV Id:
RCV001755423
dbSNP Id:
rs2104324419
gnomAD v4:
2-54526548-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.54526548C>T , CM000664.2:g.54526548C>T | GRCh38 |
| NC_000002.11:g.54753685C>T , CM000664.1:g.54753685C>T | GRCh37 |
| NC_000002.10:g.54607189C>T | NCBI36 |
| NG_029817.1:g.75232C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356805.9:c.130C>T (SPTBN1) MANE Select | ENSP00000349259.4:p.Arg44Cys | |
| ENST00000356805.8:c.130C>T (SPTBN1) | ENSP00000349259.4:p.Arg44Cys | |
| ENST00000389980.7:c.130C>T (SPTBN1) | ENSP00000374630.3:p.Arg44Cys | |
| ENST00000602898.1:n.775C>T (SPTBN1) | ||
| ENST00000615901.4:c.130C>T (SPTBN1) | ENSP00000479037.1:p.Arg44Cys | |
| NM_003128.2:c.130C>T (SPTBN1) | NP_003119.2:p.Arg44Cys | |
| XM_005264517.1:c.130C>T (SPTBN1) | XP_005264574.1:p.Arg44Cys | |
| XM_006712087.1:c.130C>T (SPTBN1) | XP_006712150.1:p.Arg44Cys | |
| XR_940097.1:n.1686-6083G>A (SPTBN1-AS1) | ||
| XR_940098.1:n.1478-6083G>A (SPTBN1-AS1) | ||
| XR_940099.1:n.1586-6083G>A (SPTBN1-AS1) | ||
| XR_940100.1:n.1112-6083G>A (SPTBN1-AS1) | ||
| XR_940101.1:n.1620-6083G>A (SPTBN1-AS1) | ||
| XR_940102.1:n.1396-6083G>A (SPTBN1-AS1) | ||
| XR_940103.1:n.1285-6083G>A (SPTBN1-AS1) | ||
| XM_005264517.2:c.130C>T (SPTBN1) | XP_005264574.1:p.Arg44Cys | |
| XM_006712087.3:c.130C>T (SPTBN1) | XP_006712150.1:p.Arg44Cys | |
| XM_017004779.1:c.130C>T (SPTBN1) | XP_016860268.1:p.Arg44Cys | |
| XM_017004780.1:c.130C>T (SPTBN1) | XP_016860269.1:p.Arg44Cys | |
| XM_017004781.1:c.130C>T (SPTBN1) | XP_016860270.1:p.Arg44Cys | |
| XR_001739471.2:n.256-6083G>A (SPTBN1-AS1) | ||
| XR_001739473.1:n.257-6083G>A (SPTBN1-AS1) | ||
| XR_001739474.1:n.251-6083G>A (SPTBN1-AS1) | ||
| NM_003128.3:c.130C>T (SPTBN1) MANE Select | NP_003119.2:p.Arg44Cys |