Linked Data
ClinVar Variation Id:
97306
ClinVar RCV Id:
RCV000083552
dbSNP Id:
rs72558436
gnomAD v3:
X-38408889-T-A
gnomAD v4:
X-38408889-T-A
PubMed:
PMID:9452049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408889T>A , CM000685.2:g.38408889T>A | GRCh38 |
| NC_000023.10:g.38268142T>A , CM000685.1:g.38268142T>A | GRCh37 |
| NC_000023.9:g.38153086T>A | NCBI36 |
| NG_008471.1:g.61407T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.731T>A MANE Select | ENSP00000039007.4:p.Leu244Gln | |
| ENST00000643344.1:c.*481T>A | ENSP00000496606.1:n.*481T>A | |
| ENST00000039007.4:c.731T>A | ENSP00000039007.4:p.Leu244Gln | |
| ENST00000465127.1:c.172-257232T>A | ENSP00000417050.1:n.172-257232T>A | |
| NM_000531.5:c.731T>A | NP_000522.3:p.Leu244Gln | |
| XM_017029556.1:c.731T>A | XP_016885045.1:p.Leu244Gln | |
| NM_000531.6:c.731T>A MANE Select | NP_000522.3:p.Leu244Gln |