Linked Data
ClinVar Variation Id:
2730925
ClinVar RCV Id:
RCV003588331
dbSNP Id:
rs1928302454
gnomAD v4:
X-74421788-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74421788C>T , CM000685.2:g.74421788C>T | GRCh38 |
| NC_000023.10:g.73641623C>T , CM000685.1:g.73641623C>T | GRCh37 |
| NC_000023.9:g.73558348C>T | NCBI36 |
| NG_011641.1:g.5539C>T | |
| NG_011641.2:g.5539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.151C>T MANE Select | ENSP00000465734.1:p.Pro51Ser | |
| ENST00000587091.5:c.151C>T | ENSP00000465734.1:p.Pro51Ser | |
| NM_006517.4:c.151C>T | NP_006508.2:p.Pro51Ser | |
| XM_005262294.1:c.151C>T | XP_005262351.1:p.Pro51Ser | |
| XM_011531015.1:c.151C>T | XP_011529317.1:p.Pro51Ser | |
| NM_006517.5:c.151C>T MANE Select | NP_006508.2:p.Pro51Ser |