Linked Data
ClinVar Variation Id:
1142361
ClinVar RCV Id:
RCV001480159
dbSNP Id:
rs763399530
ExAC:
X:138643688 C / T
gnomAD v2:
X-138643688-C-T
gnomAD v3:
X-139561529-C-T
gnomAD v4:
X-139561529-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561529C>T , CM000685.2:g.139561529C>T | GRCh38 |
| NC_000023.10:g.138643688C>T , CM000685.1:g.138643688C>T | GRCh37 |
| NC_000023.9:g.138471354C>T | NCBI36 |
| NG_007994.1:g.35794C>T , LRG_556:g.35794C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.844C>T MANE Select | ENSP00000218099.2:p.His282Tyr | |
| ENST00000643157.1:n.1511C>T | ||
| ENST00000218099.6:c.844C>T | ENSP00000218099.2:p.His282Tyr | |
| ENST00000394090.2:c.730C>T | ENSP00000377650.2:p.His244Tyr | |
| NM_000133.3:c.844C>T , LRG_556t1:c.844C>T | NP_000124.1:p.His282Tyr | |
| NM_001313913.1:c.730C>T | NP_001300842.1:p.His244Tyr | |
| XM_005262397.3:c.715C>T | XP_005262454.1:p.His239Tyr | |
| XM_005262397.4:c.715C>T | XP_005262454.1:p.His239Tyr | |
| NM_000133.4:c.844C>T MANE Select | NP_000124.1:p.His282Tyr | |
| NM_001313913.2:c.730C>T | NP_001300842.1:p.His244Tyr |