Linked Data
ClinVar Variation Id:
10707
dbSNP Id:
rs137852216
gnomAD v4:
X-64192230-G-A
PubMed:
PMID:19079258
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64192230G>A , CM000685.2:g.64192230G>A | GRCh38 |
| NC_000023.10:g.63412110G>A , CM000685.1:g.63412110G>A | GRCh37 |
| NC_000023.9:g.63328835G>A | NCBI36 |
| NG_021345.1:g.18515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.1057C>T MANE Select | ENSP00000364003.4:p.Arg353Ter | |
| ENST00000330258.3:c.1057C>T | ENSP00000329117.3:p.Arg353Ter | |
| ENST00000374869.7:c.1057C>T | ENSP00000364003.3:p.Arg353Ter | |
| NM_152424.3:c.1057C>T | NP_689637.3:p.Arg353Ter | |
| XM_011530858.1:c.1057C>T | XP_011529160.1:p.Arg353Ter | |
| NM_152424.4:c.1057C>T MANE Select | NP_689637.3:p.Arg353Ter |