Linked Data
ClinVar Variation Id:
2715369
ClinVar RCV Id:
RCV003553264
dbSNP Id:
rs988801509
gnomAD v3:
X-83508443-G-C
gnomAD v4:
X-83508443-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508443G>C , CM000685.2:g.83508443G>C | GRCh38 |
| NC_000023.10:g.82763451G>C , CM000685.1:g.82763451G>C | GRCh37 |
| NC_000023.9:g.82650107G>C | NCBI36 |
| NG_009936.2:g.5183G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.119G>C MANE Select | ENSP00000495996.1:p.Ser40Thr | |
| ENST00000373200.4:c.119G>C | ENSP00000362296.2:p.Ser40Thr | |
| NM_000307.4:c.119G>C | NP_000298.3:p.Ser40Thr | |
| NM_000307.5:c.119G>C MANE Select | NP_000298.3:p.Ser40Thr |