Linked Data
ClinVar Variation Id:
487785
ClinVar RCV Id:
RCV000577854
dbSNP Id:
rs1555984638
gnomAD v4:
X-83509337-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83509337C>T , CM000685.2:g.83509337C>T | GRCh38 |
| NC_000023.10:g.82764345C>T , CM000685.1:g.82764345C>T | GRCh37 |
| NC_000023.9:g.82651001C>T | NCBI36 |
| NG_009936.2:g.6077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.1013C>T MANE Select | ENSP00000495996.1:p.Pro338Leu | |
| ENST00000373200.4:c.1013C>T | ENSP00000362296.2:p.Pro338Leu | |
| NM_000307.4:c.1013C>T | NP_000298.3:p.Pro338Leu | |
| NM_000307.5:c.1013C>T MANE Select | NP_000298.3:p.Pro338Leu |