Linked Data
ClinVar Variation Id:
96524
dbSNP Id:
rs115605801
ExAC:
16:23436229 T / A
gnomAD v2:
16-23436229-T-A
gnomAD v3:
16-23424908-T-A
gnomAD v4:
16-23424908-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23424908T>A , CM000678.2:g.23424908T>A | GRCh38 |
| NC_000016.9:g.23436229T>A , CM000678.1:g.23436229T>A | GRCh37 |
| NC_000016.8:g.23343730T>A | NCBI36 |
| NG_021287.1:g.33284A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.850A>T MANE Select | ENSP00000305442.5:p.Ile284Phe | |
| ENST00000307149.9:c.850A>T | ENSP00000305442.5:p.Ile284Phe | |
| NM_153603.3:c.850A>T | NP_705831.1:p.Ile284Phe | |
| XR_429680.1:n.1066A>T | ||
| XM_017023870.1:c.655A>T | XP_016879359.1:p.Ile219Phe | |
| XR_002957852.1:n.1071A>T | ||
| XR_429680.2:n.1071A>T | ||
| NM_153603.4:c.850A>T MANE Select | NP_705831.1:p.Ile284Phe |