Linked Data
ClinVar Variation Id:
2632169
ClinVar RCV Id:
RCV003416668
dbSNP Id:
rs782259482
gnomAD v3:
X-153736452-G-T
gnomAD v4:
X-153736452-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736452G>T , CM000685.2:g.153736452G>T | GRCh38 |
| NC_000023.10:g.153001906G>T , CM000685.1:g.153001906G>T | GRCh37 |
| NC_000023.9:g.152655100G>T | NCBI36 |
| NG_009022.2:g.16585G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1332G>T MANE Select | ENSP00000218104.3:p.Gln444His | |
| ENST00000218104.5:c.1332G>T | ENSP00000218104.3:p.Gln444His | |
| ENST00000443684.2:n.335G>T | ||
| NM_000033.3:c.1332G>T | NP_000024.2:p.Gln444His | |
| XR_938507.1:n.1748G>T | ||
| XR_938507.2:n.1748G>T | ||
| NM_000033.4:c.1332G>T MANE Select | NP_000024.2:p.Gln444His |