Linked Data
ClinVar Variation Id:
10929
dbSNP Id:
rs137854592
gnomAD v2:
X-37658209-C-T
gnomAD v3:
X-37798956-C-T
gnomAD v4:
X-37798956-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37798956C>T , CM000685.2:g.37798956C>T | GRCh38 |
| NC_000023.10:g.37658209C>T , CM000685.1:g.37658209C>T | GRCh37 |
| NC_000023.9:g.37543149C>T | NCBI36 |
| NG_009065.1:g.23936C>T , LRG_53:g.23936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*185C>T | ENSP00000512461.1:n.*185C>T | |
| ENST00000696171.1:c.580C>T | ENSP00000512462.1:p.Arg194Ter | |
| ENST00000696172.1:c.339C>T | ENSP00000512463.1:p.Asp113= | |
| ENST00000378588.5:c.676C>T MANE Select | ENSP00000367851.4:p.Arg226Ter | |
| ENST00000378588.4:c.676C>T | ENSP00000367851.4:p.Arg226Ter | |
| ENST00000465127.1:c.171+372956C>T | ENSP00000417050.1:n.171+372956C>T | |
| ENST00000492288.1:n.101C>T | ||
| NM_000397.3:c.676C>T , LRG_53t1:c.676C>T | NP_000388.2:p.Arg226Ter | |
| XM_011543890.1:c.370C>T | XP_011542192.1:p.Arg124Ter | |
| NM_000397.4:c.676C>T MANE Select | NP_000388.2:p.Arg226Ter |