Linked Data
ClinVar Variation Id:
97115
ClinVar RCV Id:
RCV000083343
dbSNP Id:
rs72554315
gnomAD v4:
X-38367356-T-C
PubMed:
PMID:11117428
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367356T>C , CM000685.2:g.38367356T>C | GRCh38 |
| NC_000023.10:g.38226609T>C , CM000685.1:g.38226609T>C | GRCh37 |
| NC_000023.9:g.38111553T>C | NCBI36 |
| NG_008471.1:g.19874T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000039007.5:c.143T>C MANE Select | ENSP00000039007.4:p.Phe48Ser | |
| ENST00000643344.1:c.143T>C | ENSP00000496606.1:p.Phe48Ser | |
| ENST00000039007.4:c.143T>C | ENSP00000039007.4:p.Phe48Ser | |
| ENST00000465127.1:c.172-298765T>C | ENSP00000417050.1:n.172-298765T>C | |
| ENST00000488812.1:n.235T>C | ||
| NM_000531.5:c.143T>C | NP_000522.3:p.Phe48Ser | |
| XM_017029556.1:c.143T>C | XP_016885045.1:p.Phe48Ser | |
| NM_000531.6:c.143T>C MANE Select | NP_000522.3:p.Phe48Ser |