Linked Data
ClinVar Variation Id:
1685802
ClinVar RCV Id:
RCV002249969
dbSNP Id:
rs752084251
ExAC:
X:138643734 T / A
gnomAD v2:
X-138643734-T-A
gnomAD v3:
X-139561575-T-A
gnomAD v4:
X-139561575-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561575T>A , CM000685.2:g.139561575T>A | GRCh38 |
| NC_000023.10:g.138643734T>A , CM000685.1:g.138643734T>A | GRCh37 |
| NC_000023.9:g.138471400T>A | NCBI36 |
| NG_007994.1:g.35840T>A , LRG_556:g.35840T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.890T>A MANE Select | ENSP00000218099.2:p.Ile297Asn | |
| ENST00000643157.1:n.1557T>A | ||
| ENST00000218099.6:c.890T>A | ENSP00000218099.2:p.Ile297Asn | |
| ENST00000394090.2:c.776T>A | ENSP00000377650.2:p.Ile259Asn | |
| NM_000133.3:c.890T>A , LRG_556t1:c.890T>A | NP_000124.1:p.Ile297Asn | |
| NM_001313913.1:c.776T>A | NP_001300842.1:p.Ile259Asn | |
| XM_005262397.3:c.761T>A | XP_005262454.1:p.Ile254Asn | |
| XM_005262397.4:c.761T>A | XP_005262454.1:p.Ile254Asn | |
| NM_000133.4:c.890T>A MANE Select | NP_000124.1:p.Ile297Asn | |
| NM_001313913.2:c.776T>A | NP_001300842.1:p.Ile259Asn |