Linked Data
ClinVar Variation Id:
697610
dbSNP Id:
rs774612303
ExAC:
X:138612974 C / T
gnomAD v2:
X-138612974-C-T
gnomAD v3:
X-139530815-C-T
gnomAD v4:
X-139530815-C-T
ERepo:
CA10529714/MONDO:0010604/080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139530815C>T , CM000685.2:g.139530815C>T | GRCh38 |
| NC_000023.10:g.138612974C>T , CM000685.1:g.138612974C>T | GRCh37 |
| NC_000023.9:g.138440640C>T | NCBI36 |
| NG_007994.1:g.5080C>T , LRG_556:g.5080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.51C>T MANE Select | ENSP00000218099.2:p.Ile17= | |
| ENST00000218099.6:c.51C>T | ENSP00000218099.2:p.Ile17= | |
| ENST00000394090.2:c.51C>T | ENSP00000377650.2:p.Ile17= | |
| ENST00000479617.2:n.58C>T | ||
| NM_000133.3:c.51C>T , LRG_556t1:c.51C>T | NP_000124.1:p.Ile17= | |
| NM_001313913.1:c.51C>T | NP_001300842.1:p.Ile17= | |
| XM_005262397.3:c.51C>T | XP_005262454.1:p.Ile17= | |
| XM_005262397.4:c.51C>T | XP_005262454.1:p.Ile17= | |
| NM_000133.4:c.51C>T MANE Select | NP_000124.1:p.Ile17= | |
| NM_001313913.2:c.51C>T | NP_001300842.1:p.Ile17= |