Linked Data
ClinVar Variation Id:
367997
dbSNP Id:
rs150190385
ExAC:
X:138612942 A / T
gnomAD v2:
X-138612942-A-T
gnomAD v3:
X-139530783-A-T
gnomAD v4:
X-139530783-A-T
COSMIC:
COSM6036332
ERepo:
CA10529708/MONDO:0010604/080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139530783A>T , CM000685.2:g.139530783A>T | GRCh38 |
| NC_000023.10:g.138612942A>T , CM000685.1:g.138612942A>T | GRCh37 |
| NC_000023.9:g.138440608A>T | NCBI36 |
| NG_007994.1:g.5048A>T , LRG_556:g.5048A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.19A>T MANE Select | ENSP00000218099.2:p.Ile7Phe | |
| ENST00000218099.6:c.19A>T | ENSP00000218099.2:p.Ile7Phe | |
| ENST00000394090.2:c.19A>T | ENSP00000377650.2:p.Ile7Phe | |
| ENST00000479617.2:n.26A>T | ||
| NM_000133.3:c.19A>T , LRG_556t1:c.19A>T | NP_000124.1:p.Ile7Phe | |
| NM_001313913.1:c.19A>T | NP_001300842.1:p.Ile7Phe | |
| XM_005262397.3:c.19A>T | XP_005262454.1:p.Ile7Phe | |
| XM_005262397.4:c.19A>T | XP_005262454.1:p.Ile7Phe | |
| NM_000133.4:c.19A>T MANE Select | NP_000124.1:p.Ile7Phe | |
| NM_001313913.2:c.19A>T | NP_001300842.1:p.Ile7Phe |