Linked Data
ClinVar Variation Id:
8418
dbSNP Id:
rs72558201
ExAC:
10:101595950 A / T
gnomAD v2:
10-101595950-A-T
gnomAD v3:
10-99836193-A-T
gnomAD v4:
10-99836193-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836193A>T , CM000672.2:g.99836193A>T | GRCh38 |
| NC_000010.10:g.101595950A>T , CM000672.1:g.101595950A>T | GRCh37 |
| NC_000010.9:g.101585940A>T | NCBI36 |
| NG_011798.1:g.58488A>T | |
| NG_011798.2:g.58596A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3517A>T MANE Select | ENSP00000497274.1:p.Ile1173Phe | |
| ENST00000370449.8:c.3517A>T | ENSP00000359478.4:p.Ile1173Phe | |
| NM_000392.4:c.3517A>T | NP_000383.1:p.Ile1173Phe | |
| XM_006717630.2:c.2821A>T | XP_006717693.1:p.Ile941Phe | |
| XR_945604.1:n.3706A>T | ||
| XR_945605.1:n.3708A>T | ||
| NM_000392.5:c.3517A>T MANE Select | NP_000383.2:p.Ile1173Phe | |
| XM_006717630.3:c.2821A>T | XP_006717693.1:p.Ile941Phe | |
| XR_945604.3:n.3760A>T | ||
| XR_945605.3:n.3760A>T |